Macular drusen

Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula.


Peters anomaly

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Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.


Foveal hyporeflective spaces on macular OCT

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Cyst of the eyelid

Localized swelling of the eyelid due to blockage of the meibomian glands, usually caused by inflammation.


Difficulty adjusting to changes in luminance


Retinal hamartoma

A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.


Retinopathy of prematurity stage 2

The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous.


Nummular pigmentation of the fundus

Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.


Abnormal amplitude of light-adapted single flash electroretinogram


Eyelid pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eyelid.


Macrosquare-wave jerks

Horizontal 10-40 degree excursions from fixation and back again.


Foveal intraretinal hyporeflective spaces on macular OCT


Severe photosensitivity

A severe degree of photosensitivity of the skin.


Esodeviation

A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.


hypertropia

Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye.


Horizontal eyebrow

An eyebrow that extends straight across the brow, without curve.


Phakodonesis

Tremulousness (trembling) of the lens of the eye.


Abnormality of lens shape

An abnormal shape of the lens.


Posterior corneal stroma punctiform multicolored opacities

Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination.


Sensory exotropia

A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.


central serous chorioretinopathy

Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals.


Microphakia

Abnormal smallness of the lens.


Abnormality of chorioretinal pigmentation


internuclear ophthalmoplegia

An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.


Abnormal eyelid morphology

An abnormality of the eyelids.


ectopia pupillae

A malposition of the pupil owing to a developmental defect of the iris.


Abnormal light-adapted flicker electroretinogram


Retinopathy of prematurity plus

Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye.


Aplasia/Hypoplasia affecting the anterior segment of the eye

Absence or underdevelopment of the anterior segment of the eye.


Nongranulomatous uveitis

A form of uveitis that is not associated with the formation of granulomas.


Gustatory lacrimation

Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.


Anterior blepharitis

A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.


cataract 2, multiple types

Any cataract in which the cause of the disease is a mutation in the CRYGC gene.


Optic atrophy from cranial nerve compression


Sub-inner limiting membrane hemorrhage

A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer.


Aplasia/Hypoplasia of the eyebrow

Absence or underdevelopment of the eyebrow.


Visual acuity light perception without projection


Preretinal hemorrhage

An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.


Alternating hypophoria

A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.


With the rule astigmatism

Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest).


Subretinal hemorrhage

Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium.


exudative vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.


Foveal retinal pigment epithelial loss on macular OCT


Moderately reduced visual acuity

Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation).


Developmental cataract

A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.


Ciliary body coloboma

A coloboma of the ciliary body.


Duane retraction syndrome

Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.


Ultra-low vision with retained light projection

Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus.


Mild hypermetropia

A form of hypermetropia with not more than +2.00 diopters.


Conjunctival papillae

Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.


Centrocecal scotoma

A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.


Absent corneal reflex

Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles.


Macular schisis

Splitting of the retina in the macular region.


congenital fibrosis of extraocular muscles

Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.


choroideremia

Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.


Abnormal timing of pattern electroretinogram


optic disk drusen

Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)


anisocoria

Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.


staphyloma posticum

A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.


Bone spicule pigmentation of the retina

Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).


coloboma of choroid and retina

Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.


Conjunctival membrane

Formation of a sheet of tissue by coagulum of exudate over the conjunctiva of the eye that if removed leaves behind a denuded bleeding surface.


Iris flocculi

Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.


xanthoma

A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues.


Central retinal vessel vascular tortuosity

The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).


Hamartoma of the eye

A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.


Nonprogressive restrictive external ophthalmoplegia

Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.


Abnormal oblique muscle physiology

A functional anomaly of the inferior or superior oblique muscle.


Conjunctival icterus

Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.


Anterior chamber red blood cells

The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.


Capsular cataract

A cataract that affects the capsule of the lens.


Retinal dysplasia

The presence of developmental dysplasia of the retina.


Retinopathy of prematurity stage 4

Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment.


Abnormal electroretinogram

Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.


Severely reduced visual acuity

Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation).


Macular cotton wool spot

Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.


Hypoautofluorescent macular lesion

Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.


Iris hypoperfusion

Reduction in the amount of blood flow to the iris.


Ocular melanocytosis

A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.


Ophthalmic artery occlusion

A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs.


branch retinal artery occlusion

An occlusion of a branch of the retinal artery.


Anterior chamber flare grade 1+

Faint anterior chamber flare.


coloboma of eyelid

A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.


Congenital blindness

Blindness with onset at birth.


Hyperopic astigmatism

A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.


Increased vertical cup-to-disc ratio

An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc.


Constant exotropia

A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.


Hypometric horizontal saccades

Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.


Retinal dots

Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.


A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea.


Visual gaze preference

An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.


Dysmetric vertical saccades

Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.


Horizontal jerk nystagmus

Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.


color vision disorder

The absence of or defect in the perception of colors.


paralytic strabismus

An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.


Inferior rectus muscle underaction

Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.


Anterior lenticonus

A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.


Heliotrope rash of eyelid

Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.


Ultra-low vision with retained light perception

Ultra-low vision but with retained ability to perceive the difference between light and dark.


Compensatory face turn to the left

A tendency to turn the face to the left to compensate for a limitation of eye movement.


Iridodonesis

Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.


Abnormal nasolacrimal system morphology

An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.


Multiple bilateral congenital hypertrophy of retinal pigment epithelium

Sharply demarcated hyperpigmentation which is congenital.


Concomitant strabismus

Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.


Reticular pigmentary degeneration

A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.


Near exotropia

An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).


blepharochalasis

An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.


Limited extraocular movements

Limited mobility of the eye within its socket.


Absent lower eyelashes

Lack of eyelashes on the lower lid.


Abnormal ocular alignment

Any deviation from the normal ocular alignment.


Compensatory chin depression

A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.


Lateral rectus muscle weakness

Decreased strength (ability to move) of the lateral rectus muscle.


Conjunctival whitish salt-like deposits

The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.


Optic nerve arteriovenous malformation

An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve.


Inferior lens subluxation

Partial displacement of the lens in the inferior direction.


Photoreceptor layer loss on macular OCT

Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.


Kayser-Fleischer ring

Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.


Heterophoria

Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.


Trichiasis

Inversion and rubbing of the eyelashes against the globe of the eye.


Paroxysmal tonic upgaze

Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness.


ectropion

The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)


Abnormal corneal reflex

An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea.


Holmes-Adie syndrome

A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye.


Abnormal light- and dark-adapted electroretinogram

An abnormality of the combined rod-and-cone response on electroretinogram.


posterior uveitis

Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.


Abnormal pupil morphology

An abnormality of the pupil.


Retinal astrocytic hamartoma

A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.


Eccentric visual fixation

A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.


Thin eyebrow

Decreased diameter of eyebrow hairs.


Corneolenticular adhesion

Developmental abnormality in which the lens and cornea are not separated.


Highly arched eyebrow

Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.


Posterior cortical cataract

A cataract that affects the posterior part of the cortex of the lens.


Moderate hypermetropia

A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.


retinoschisis

An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision.


Spasmus nutans

The combination of pendular nystagmus, head nodding, and torticollis.


Compensatory head tilt to the left shoulder

A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.


Abnormal posterior eye segment morphology


Incyclophoria

A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.


Synophrys

Meeting of the medial eyebrows in the midline.


Abnormal Vistech contrast sensitivity test

An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.


Central opacification of the cornea

Reduced transparency of the central portion of the corneal stroma.


Oval pupil

An abnormal pupil shape that is elliptical, i.e., egg-like.


Opsoclonus

Bursts of large-amplitude multidirectional saccades without intersaccadic interval


Increased Arden ratio of electrooculogram

An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.


Esophoria

A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.


Incomitant strabismus

Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.


Retinopathy of prematurity stage 4a

A detachment that involves the peripheral retina that does not extend into the macula.


Abnormal extraocular muscle physiology

A functional anomaly of the muscles of the eye.


Dull foveal reflex

Reduced brigthness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.


Superior rectus muscle restriction

Mechanical limitation of the range of movement of the superior rectus muscle.


Asteroid hyalosis

The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.


Anomalous trichromacy

Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.


optic choroid disorder

A disease involving the optic choroid.


ocular cancer

A benign or malignant neoplasm affecting the structures of the eye.


White eyelashes

White color (lack of pigmentation) of the eyelashes.


Hyperpigmentation of the fundus

Increased pigmentation of the fundus


Abnormal Humphrey SITA 24-2 perimetry test


Cyclic esotropia

Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.


Band keratopathy

An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.


Generalized opacification of the cornea

Generalized reduced transparency of the stroma of the cornea.


Abnormal timing of light-adapted single flash electroretinogram


retrobulbar neuritis

Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.


Hyperautofluorescent retinal lesion

Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.


Abnormal suspensory ligament of lens morphology

An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.


Anterior staphyloma

A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.


Infantile constant esotropia

Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.


Peripheral retinal detachment

Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina.


A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea.


congenital stationary night blindness

A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.


Christmas tree cataract

A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree.


Chemosis

Edema (swelling) of the bulbar conjunctiva.


Spontaneous rupture of the globe

Rupture of the eyeball not due to trauma.


Abnormal rectus muscle physiology

A functional anomaly of a vertical or horizontal rectus muscle.


Optically empty vitreous

Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.


Elevated blink rate

The frequecy with which the eye is blinked is above the upper limit of normal.


Retinal calcification

Deposition of calcium salts in the retina.


Anterior chamber cells grade 3+

Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Irregular central macular autofluorescence


snowflake vitreoretinal degeneration

Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36.


Abnormal eye morphology

A structural anomaly of the globe of the eye, or bulbus oculi.


Anterior chamber flare grade 4+

Intense anterior chamber flare (fibrin/plastic aqueous).


Abnormal migration of corneal endothelium.


Absent eyebrow

Absence of the eyebrow.


Retinal nonattachment

Failure of attachment of the retina during development.


Lamellar pulverulent cataract

A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance.


Posterior crocodile shagreen of the cornea

Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin.


Abnormality of the ocular adnexa

An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.


Horizontal pendular nystagmus

Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.


Thick eyebrow

Increased density/number and/or increased diameter of eyebrow hairs.


cicatricial entropion

Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid.


Protanopia

Blue and green cones only; no functional red cones.


Conjunctival dermolipoma

A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus.


pulverulent cataract

A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.


retinitis pigmentosa

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.


Posterior polar cataract

A polar cataract that affects the posterior pole of the lens.


Abnormality of corneal thickness

An abnormal anteroposterior thickness of the cornea.


Punctate opacification of the cornea

Punctate opacification (reduced transparency) of the corneal stroma.


Abnormal anterior eye segment morphology

An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).


Limbal edema

Swelling of the margin of the cornea overlapped by the sclera.


Perifoveal hypoautofluorescence

Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea.


Abnormal distribution of retinal arterioles and venules


cone dystrophy

An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.


Vitreomacular adhesion

Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions.


Retinal arterial macroaneurysms

Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative.


Abnormal corneal endothelium morphology

Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.


Progressive external ophthalmoplegia

Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.


Increased vertical cup-to-disc ratio - 0.8

Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3).


Foveal inner retinal layer loss on macular OCT


Dysmetric horizontal saccades

Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.


enophthalmos

Abnormal recession of the eyeball within the eye socket.


Hypotelorism

Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).


Focal subretinal deposits

Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution.


Lateral rectus muscle restriction

Mechanical limitation of the range of movement of the lateral rectus muscle.


Inferior chorioretinal coloboma

Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.


Scleral thickening

Increased dimension of the sclera in the anterior-posterior axis.


Adult-onset night blindness

Inability to see well at night or in poor light with onset in adulthood.


Abnormality of foveal pigmentation

An anomaly of the pigmentation in the fovea centralis.


Ectopic cilia of eyelid

An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.


Keratoglobus

Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.


Incyclotropia

A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.


Macular flecks

Pale often indistinct lesions of the macula.


Alternating hyperphoria

A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.


Abnormal visual accommodation

An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.


Deep episcleral hyperemia

Prominence of blood vessels of the deep episcleral tissues.


Iris pigment dispersion

Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.


Against the rule astigmatism

Astigmatism with more plus power on the horizontal meridian.


Infantile constant exotropia

Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.


Increased axial length of the globe

Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.


Inferior oblique muscle overaction

A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye.


Aplasia/Hypoplasia of the lens

Absence or underdevelopment of the lens.


Impaired pursuit initiation and maintenance


Hypermetric saccades

A saccade that overshoots the target with the dynamic saccade.


intermediate uveitis

Inflammation of the pars plana.


Abnormal eyelid physiology

Any functional abnormality of the eyelid.


Lens coloboma

A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.


Macular thickening

Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.


Iris cyst

An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.


Gaze-evoked horizontal nystagmus

Horizontal nystagmus made apparent by looking to the right or to the left.


glaucoma 3A

An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.


primary angle-closure glaucoma

An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.


Cyclic exotropia

A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.


Vitreous strands

Fiber- or rope-like opacities located within the vitreous humor.


retinal telangiectasia

Dilatation of small blood vessels of the retina.


Distance exotropia

A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.


corneal dystrophy

The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.


Inflammatory abnormality of the eye

Inflammation of the eye, parts of the eye or the periorbital region.


cone-rod dystrophy 21

Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.


Dark choroid

A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).


Retinopathy of prematurity zone III

Retinopathy which is a residual crescent of retina anterior to zone II.


Foveal hemorrhage

Bleeding occurring within the fovea.


Iris nevus

A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.


Pericentral scotoma

A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.


Corneal pterygium

Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea.


bradyopsia

Bradyopsia is characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.


Hypoautofluorescent retinal lesion

Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.


Abnormality of pattern reversal visual evoked potentials


Foveal subretinal hyporeflective spaces on macular OCT


Abnormal eyelash morphology

An abnormality of the eyelashes.


Increased OCT-measured macular thickness


Tortuosity of conjunctival vessels

The presence of an increased number of twists and turns of the conjunctival blood vessels.


Fractured orbit of skull

A partial or complete breakage of the orbit of skull.


Medial rectus muscle underaction

Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.


Reduced amplitude of dark-adapted bright flash electroretinogram a-wave

An abnormal reduction in the amplitude of the a-wave.


Retinitis pigmentosa inversa

Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).


Submacular hemorrhage

Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.


anterior segment dysgenesis

A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).


Superior lens subluxation

Partial dislocation of the lens in a superior direction.


Retinal nerve fiber edema

Swelling (edema) of the retinal nerve fibers.


Glial remnants posterior to lens

This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot.


Small yellow foveal lesion with surrounding gray zone

A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity.


Abnormality of globe size

An abnormality in the size of the ocular globe (eyeball).


aniridia

Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).


Anterior chamber cells grade 4+

Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Mild myopia

A mild form of myopia with up to -3.00 diopters.


Aplasia/Hypoplasia affecting the uvea

Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.


early-onset non-syndromic cataract

Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.


Conjunctival telangiectasia

The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.


Square-wave jerks

Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.


Granular macular appearance

Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.


Decreased lacrimation

Abnormally decreased lacrimation, that is, reduced ability to produce tears.


Saccadic oscillation

An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.


Lacrimation abnormality

Abnormality of tear production.


Choroidal nevus

A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia.


Dot-and-blot retinal hemorrhage

Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location.


cataract 16 multiple types

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene.


Abnormal horizontal rectus muscle physiology

A functional anomaly of the medial rectus muscle or lateral rectus muscle.


Membranous cataract

A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.


Short eyelashes

Decreased length of the eyelashes (subjective).


Giant conjunctival papillae

Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.


Excyclotropia

A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.


Polycoria

Multiple pupils.


Inferior oblique muscle restriction

Mechanical limitation of the range of movement of the inferior oblique muscle.


Horizontal nystagmus

Nystagmus consisting of horizontal to-and-fro eye movements.


Basic constant exotropia

Constant exotropia for near and distance, presenting after 6 months of age.


Ophthalmoparesis

Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.


Hypoplasia of the ciliary body

Underdevelopment of the ciliary body.


Abnormal fundus morphology

Any structural abnormality of the fundus of the eye.


Limited vertical extraocular movement

Limited mobility of the eye to move up and down (vertically) within its socket.


Hypermetric horizontal saccades

Overshoot of horizontal (sideways) saccadic eye movements.


Congenital stationary night blindness with abnormal fundus


Abnormal involuntary eye movements

Anomalous movements of the eyes that occur without the subject wanting them to happen.


Conjunctival follicles

Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells.


Bussaca nodules

A type of iris nodule consisting of inflammatory cell precipitates which lie on the iris surface.


Scintillating scotoma

A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.


fundus albipunctatus

Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.


amblyopia

Decreased vision that results from abnormal visual development.


Impaired horizontal smooth pursuit

An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.


Eye movement-induced pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.


Retinal arteriolar tortuosity

The presence of an increased number of twists and turns of the retinal arterioles.


retinal microaneurysm

An aneurysm that is located within the system of small blood vessels, including capillaries, venules, and arterioles, that perfuse the body's tissues.


Compensatory chin elevation

A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.


Severe constriction of peripheral visual field

Peripheral visual field constriction with 10-19 degrees central field preserved.


Optic pit

A developmental anomaloy characterized by congenital excavation of the optic nerve head.


Retinopathy of prematurity zone I

Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula.


Alternating hypotropia

A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.


Central heterochromia

The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.


Abnormal pattern electroretinogram

An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light.


Long eyelashes

Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).


Retinal crystals

Crystalline deposits in the retina.


Juvenile cataract

A type of cataract that is not apparent at birth but that arises in childhood or adolescence.


Abnormality of fundus pigmentation

Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.


Superior rectus muscle weakness

Decreased strength of the superior rectus muscle.


Decreased corneal reflex

An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.


accommodative esotropia

A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.


Anterior chamber inflammatory cells

The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.


peripheral retinal degeneration

Degeneration of the peripheral retina.


Lisch nodules

The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..


Triangular nuclear cataract

A nuclear cataract with a triangular form.


Focal sub-RPE deposits

Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus.


Abnormal amplitude of pattern electroretinogram


retinal cancer

A malignant neoplasm involving the retina.


Bilateral microphthalmos

A developmental anomaly characterized by abnormal smallness of both eyes.


Ultra-low vision with retained motion projection

Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).


ocular albinism

Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.


arcus senilis

A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.


Abnormal timing of light-adapted flicker electroretinogram


Spontaneous conjunctival filtering bleb

Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma.


Abnormal retinal morphology on macular OCT


Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence


Abnormality of eye movement

An abnormality in voluntary or involuntary eye movements or their control.


Seesaw nystagmus

Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.


red-green color blindness

Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population.


Subretinal pigment epithelium hemorrhage

An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane.


Perifoveal ring of hyperautofluorescence


Posterior lenticonus

A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.


Abnormal uvea morphology

An abnormality of the uvea, the vascular layer of the eyeball.


Cerebral visual impairment

A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.


Axenfeld anomaly

Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.


Defect of palpebral conjunctiva

An abnormality of the palpebral conjunctiva.


Abnormal paracentral response of multifocal electroretinogram


Abnormal corneal limbus morphology

An anomaly of the margin of the cornea overlapped by the sclera.


Poor visual behavior for age

Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones.


Foveal atrophy

Partial or complete loss of foveal tissue that was once present.


megalocornea

An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.


Abnormal iris pigmentation

Abnormal pigmentation of the iris.


Foveal depigmentation

Loss of pigment in the fovea centralis.


Optic nerve dysplasia

The presence of developmental dysplasia of the optic nerve.


Abnormal timing of pattern reversal visual evoked potentials


Abnormal ocular adnexa physiology

A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.


Temporal optic disc pallor

A pale yellow discoloration of the temporal (lateral) portion of the optic disc.


Bitot spots of the conjunctiva

Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.


retinal arterial tortuosity

The presence of an increased number of twists and turns of the retinal artery.


Increased cup-to-disc ratio

An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.


Long eyebrows

Increased length of the hairs of the eyebrows.


Abnormal timing of dark-adapted bright flash electroretinogram


Downbeat nystagmus

Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.


Partially accomodative esotropia

A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.


Foveal hypopigmentation

Decreased amount of pigmentation in the fovea centralis.


Glial remnants anterior to the optic disc

Persistance of a posterior remnant of the hyaloid artery located at the optic disc.


Drusen

Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.


Long upper eyelashes

Increased length of the upper eyelashes.


Lacrimal pump failure

A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion.


Ultra-low vision

Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).


Peripheral opacification of the cornea

Reduced transparency of the peripheral region of the cornea.


Opacification of the corneal epithelium

Lack of transparency of the corneal epithelium.


Peripapillary exudate

A retinal exudate in the area surrounding the optic nerve head.


Posterior capsular cataract

A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.


Retinal pigment epithelial mottling

Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.


Abnormal Pelli Robson contrast sensitivity chart test

An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast.


Seborrhoeic blepharitis

Inflammation of the eyelid due to overactivity of the sebaceous gland.


cornea plana

Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.


Superior oblique muscle weakness

Decreased strength of the superior oblique muscle.


Stellate iris

A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.


Peripheral vitreoretinal degeneration

A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.


Abnormality of the vasculature of the eye


Lipemia retinalis

A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.


Chorioretinal dysplasia

Abnormal development of the choroid and retina.


Iridescent posterior subcapsular cataract

A type of posterior subcapsular cataract characterized by an iridescent color.


Abnormal corneal epithelium morphology

Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.


Medial rectus muscle overaction

Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.


non-arteritic anterior ischemic optic neuropathy

An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.


Superior rectus muscle overaction

Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.


Brushfield spots

The presence of whitish spots in a ring-like arrangement at the periphery of the iris.


Lipomas of eyelids

Fatty tumors on the eyelids.


procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 isoform h2 (human)

A procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q02809-2.


Heinz body anemia

Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.


Small Intestinal High Grade B-Cell Lymphoma, Not Otherwise Specified

A small intestinal high grade B-cell lymphoma with blastoid features or features between diffuse large B-cell lymphoma and Burkitt lymphoma which lacks MYC, BCL2, and BCL6 rearrangements.


multicentric osteolysis, nodulosis, and arthropathy

A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.


A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.


Winchester syndrome

An autosomal recessive inherited disorder, caused by mutation(s) in the MMP14 gene, encoding matrix metalloproteinase-14. It is characterized by short stature, coarse facial features, flat nose, joint contractures, severe osteolysis in the hands and feet, and generalized osteoporosis.


Stage IIIA Retroperitoneal Sarcoma AJCC v8

Stage IIIA includes: T2, N0, M0, G2, G3. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)


retroperitoneal sarcoma

A sarcoma involving a retroperitoneal space.


Adrenal Gland Leiomyosarcoma

A rare leiomyosarcoma that arises from the adrenal gland.


Retroperitoneal Malignant Peripheral Nerve Sheath Tumor

Malignant peripheral nerve sheath tumor that arises in the retroperitoneum.


Stage IIIB Retroperitoneal Sarcoma AJCC v8

Stage IIIB includes: (T3, T4, N0, M0, G2, G3); (Any T, N1, M0, Any G). T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. N1: Regional lymph node metastasis. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)


Stage I Retroperitoneal Sarcoma AJCC v8

Stage I includes: IA: (T1, N0, M0, G1, GX); IB: (T2, T3, T4, N0, M0, G1, GX). T1: Tumor measuring 5 cm or less in greatest dimension. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)


Stage IA Retroperitoneal Sarcoma AJCC v8

Stage IA includes: T1, N0, M0, G1, GX. T1: Tumor measuring 5 cm or less in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)


Adrenal Gland Angiosarcoma

A rare malignant soft tissue neoplasm arising from the vascular endothelium of the adrenal gland.


Stage III Retroperitoneal Sarcoma AJCC v8

Stage III includes: IIIA: (T2, N0, M0, G2, G3); IIIB: (T3, T4, N0, M0, G2, G3); (Any T, N1, M0, Any G). T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. N1: Regional lymph node metastasis. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)


Retroperitoneal Rhabdomyosarcoma

A rhabdomyosarcoma arising from the retroperitoneum.


Stage II Retroperitoneal Sarcoma AJCC v8

Stage II includes: T1, N0, M0, G2, G3. T1: Tumor measuring 5 cm or less in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)


Retroperitoneal Undifferentiated Pleomorphic Sarcoma

A rare undifferentiated pleomorphic sarcoma that arises from the retroperitoneum.


Retroperitoneal Sarcoma by AJCC v8 Stage

A term that refers to the staging of retroperitoneal soft tissue sarcoma, following the rules of the TNM AJCC v8 classification system. This staging system applies to common sarcomas in the retroperitoneum. (from AJCC 8th Ed.)


retroperitoneal leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells.


Stage IV Retroperitoneal Sarcoma AJCC v8

Stage IV includes: Any T, Any N, M1, Any G. M1: Distant metastasis. (AJCC 8th ed.)


Adrenal Gland Sarcoma

A rare sarcoma that arises from the adrenal gland.


Stage IB Retroperitoneal Sarcoma AJCC v8

Stage IB includes: T2, T3, T4, N0, M0, G1, GX. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)


Abnormal T cell proliferation

Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.


Defective T cell proliferation

A reduced ability of a T cell population to expand by cell division following T cell activation.


Reduced antigen-specific T cell proliferation

Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.


Diamond-Blackfan anemia 12

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.


Bifid first metacarpal

Partial duplication of the first metacarpal bone.


Partial duplication of the proximal phalanges of the hand

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Partial duplication of the proximal phalanx of the 3rd finger

Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


Partial duplication of the proximal phalanx of the 2nd finger

Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


Partial duplication of the proximal phalanx of the 5th finger

Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


Partial duplication of the proximal phalanx of the 4th finger

Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


mu-type opioid receptor isoform m5 (mouse)

A mu-type opioid receptor (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P42866-5.


FAD-linked sulfhydryl oxidase ALR isoform h2 (human)

An FAD-linked sulfhydryl oxidase ALR (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55789-2.


Decreased circulating fetuin A concentration

A reduction below normal of fetuin A in the blood circulation.


Anti-nucleolus-organizing region antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90.


Renal arteriolar lumen organized thrombi

Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney.


Upper limb phocomelia

Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).


Abnormality of the menstrual cycle

An abnormality of the ovulation cycle.


Class III obesity

Obesity with a body mass index of 40 kg per square meter or higher.


Abnormality of the distal femoral epiphysis

Any abnormality of the distal epiphysis of the femur.


Ethmocephaly

Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.


Dry nipple

Abnormally dry skin in the area of the nipple of the breast.


Agenesis of incisor

Agenesis of incisor.


Excessively quiet voice

Speech which is abnormally quiet or inappropriate whispering that is not due to a structural or muscular abnormality.


Abnormal cortical peritubular capillary lumen morphology

Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney.


Abnormal circulating tyrosine concentration

Any deviation from the normal concentration of tyrosine in the blood circulation.


Subtentorial periventricular white matter hyperdensity

Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum).


Absence of secondary sex characteristics

No secondary sexual characteristics are present at puberty.


Symphalangism affecting the middle phalanges of the toes


Circumungual hyperkeratosis

A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.


Double first metacarpals

Duplication of the metacarpal I bones.


Forward facing earlobe

Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear.


Spider hemangioma

A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.


Decreased sweating due to autonomic dysfunction


Supraclavicular lymphadenopathy

Enlarged lymph node located just above the clavicle (collarbone).


Bracket epiphysis of the distal phalanx of the 5th toe


Increased insulin like growth factor binding protein acid labile subunit concentration

An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation.


Biceps aplasia

Absence of the biceps muscle.


Superficial dermal perivascular inflammatory infiltrate

Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis.


Cervical ectopia cordis

A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum.


Hypoplasia of the uterus

Underdevelopment of the uterus.


Proximal/middle symphalangism of 4th toe

Bony fusion of the middle and proximal phalanges of the 4th toe.


Slow-growing nails

Nails whose growth is slower than normal.


Chronic decreased circulating IgG4

A lasting decrease of immunoglobulin G4 (IgG4) in the blood.


Irregular tarsal ossification

Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Increased intramuscular fat

An abnormal increase in the amount of intramuscular fat tissue.


Enamel agenesis

Complete or almost complete absence of enamel.


Abnormality of frontal sinus

An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.


Hypoactive bowel sounds

An decreased amount of bowel sounds.


Abnormal vitamin B12 level

A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.


Impaired task monitoring

Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal.


histrionic personality disorder

A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior.


Fractured metaphysis of femur

A partial or complete breakage of the metaphysis of femur.


Joint contracture of the 5th finger

Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.


Impaired Ig class switch recombination

An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.


Large cafe-au-lait macules with irregular margins

Large hypermelanotic macules with jagged borders.


Decreased level of plasminogen

A decreased level of Plasminogen


Fibular aplasia

Absence of the fibula.


Elevated circulating cartilage oligomeric matrix protein concentration

An increased blood concentration of cartilage oligomeric matrix protein (COMP).


Small cerebellar cortex

Reduced size of the cerebellar cortex.


Multifocal breast carcinoma

Breast carcinoma that is bilateral or otherwise multifocal.


Renal arteriole lymphocyte endoarterial hypercellularity

A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen.


Aplasia/Hypoplasia of the 2nd finger

A small/hypoplastic or absent/aplastic 2nd finger.


Fractured calcaneus

A partial or complete breakage of the calcaneus.


Anti-GM3 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3.


Aplasia/Hypoplasia of the middle phalanx of the 3rd toe


Abnormal response to short acting pulmonary vasodilator

Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg.


Limb-girdle muscle atrophy

Muscular atrophy affecting the muscles of the limb girdle.


EEG with irregular generalized spike and wave complexes

EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.


Nihilistic delusion

A false belief associated with the nonexistence of the "self," specific body parts, or the world.


female orgasmic disorder

A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse.


Papillary renal cell carcinoma type 2

A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.


Focal impaired awareness sexual automatism seizure

A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset.


Folate deficiency in CSF

A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.


Glomerular basement membrane electron dense deposits

Electron-dense deposits in the lamina densa with a ribbon or a sausage structure.


Upper limb peromelia

Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.


Absent epiphyses of the distal phalanges of the hand


Patchy sclerosis of the distal phalanx of the 3rd finger

Uneven (irregular) increase in bone density of the distal phalanx of the third finger.


Abnormality of the outer ear

An abnormality of the external ear.


Impaired urinary acidification

The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.


Unilateral vocal cord paresis

Decreased strength of the vocal fold on one side.


Abnormal limb bone morphology

Any abnormality of bones of the arms or legs.


Triangular shaped phalanges of the 3rd toe


Stippling of the epiphyses of the 4th finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger.


Increased anti-venom IgE antibody level

Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.


Conical mandibular incisor

An abnormal conical morphology of the primary or permanent mandibular incisors.


Orthodeoxia

Low level of blood oxygen induced by changing from a recumbent to an upright position.


Air crescent sign

A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan.


Abnormality of body height

Deviation from the norm of height with respect to that which is expected according to age and gender norms.


Intrapulmonary sequestration

A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.


Increased anti-alpha-gal IgE antibody level

Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat.


Horseshoe kidney

A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.


Aplasia/Hypoplasia of the tarsal bones

Absence or underdevelopment of the tarsal bones.


X-linked calvarial hyperostosis

Excessive growth of the calvaria.


Erythematous oral mucosa

An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium.


arthrogryposis

A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.


Abnormal liver sonography

An abnormal appearance of the liver or any of its components on sonography (ultrasound).


Non-obstructive azoospermia

Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.


Abnormality of immune system physiology

A functional abnormality of the immune system.


Cortical thickening of long bone diaphyses

Abnormal thickening of the cortex of the diaphyseal region of long bones.


Agenesis of mandibular premolar

Agenesis of mandibular premolar.


Congenital finger flexion contractures

Multiple bent (flexed) finger joints that cannot be straightened actively or passively.


Small earlobe

Reduced volume of the earlobe.


Periodic limb movements

Repetitive limb movements during sleep can affect the quality of your sleep.


Decreased plasma total carnitine

A decreased concentration of total carnitine in the blood.


Increased circulating troponin T concentration

An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.


Anti-PM-Scl antibody positivity

Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40.


Abnormal ventriculoarterial connection

An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.


Duplication of the distal phalanx of the 4th finger

Partial or complete duplication of the distal phalanx of ring finger.


Ivory epiphyses of the 4th toe

Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Premature epimetaphyseal fusion in ulna

Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.


pleomorphic xanthoastrocytoma

A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.


Abnormal pinna morphology

An abnormality of the pinna, which is also referred to as the auricle or external ear.


Olfactory hallucination

Perception of smell without olfactory stimulus.


Abnormal urinary electrolyte concentration

An abnormality in the concentration of electrolytes in the urine.


Increased nuchal translucency

Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).


Long nasal bridge

Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.


Growth arrest lines

Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.


Abnormal iliac artery morphology

Any structural anomaly of the iliac artery.


Hypoplasia of the upper arm musculature

Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.


Nasogastric tube feeding in infancy

Feeding problem necessitating nasogastric tube feeding.


Renal tubular epithelial cell casts

A type of cellular urinary cast composed of renal tubular epithelial cells.


Abnormal enteric nervous system morphology

A structural anomaly of nerves of the enteric nervous system.


Increased anti-parasite IgE antibody level

Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii.


pilonidal sinus

A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.


Fixed splitting of the second heart sound

Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration.


Curved distal phalanx of the 2nd finger

Curved appearance of the distal phalanx of the 2nd finger.


Abnormal glomerular parietal epithelial cell morphology

Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole.


Decreased size of nasopharyngeal adenoids

An abnormal decrease in the size of nasopharyngeal adenoids.


Duplication of the distal phalanx of the thumb

Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.


congenital anomalies of kidney and urinary tract 2

Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.


Abnormal tricuspid valve leaflet morphology

Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.


Abnormal fetal skin morphology

Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


Bracket epiphyses of the phalanges of the hand

Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


Thick vermilion border

Increased width of the skin of vermilion border region of upper lip.


Neuroinflammation

Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.


Simple ear

The pinna has fewer folds and grooves than usual.


Elevated circulating C4 acylcarnitine concentration

Concentration of C4 acylcarnitines in the blood circulation above the upper limit of normal. C4 acylcarnitines have a four-carbon acyl chain.


Abnormality of hair pigmentation

An abnormality of hair pigmentation (color).


Chronic hemolytic anemia

An chronic form of hemolytic anemia.


Delayed eruption of teeth

Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.


Chronic monilial nail infection

Chronic infection of the nails by Candida species.


Carotid artery dilatation

A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.


Arcuate artery lumen cholesterol emboli

Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


Underdeveloped tragus

Decreased posterolateral protrusion of the tragus.


Abnormal CSF lysine concentration

Any deviation from the normal concentration of lysine in the cerebrospinal fluid.


Bracket epiphysis of the proximal phalanx of the 5th finger

An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


Reticular hyperpigmentation

Increased pigmentation of the skin with a netlike (reticular) pattern.


Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


Anti-multiple nuclear dots antibody positivity

A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.


Hypermanganesemia

An elevation above the normal concentration of manganese in the blood.


Clavicular sclerosis

An increase in bone density within the clavicle.


Punctate periventricular T2 hyperintense foci

Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.


Erythema migrans

An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).


Partial absence of specific antibody response to tetanus vaccine

A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.


Abnormal cerebellum morphology

Any structural abnormality of the cerebellum.


polymicrogyria

A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.


Abnormal celiac artery morphology

An anomaly of the celiac artery.


Pseudoepiphysis of the proximal phalanx of the hallux

A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe.


Capillary malformation of the lip

A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.


Accessory cardiac bronchus

Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended.


Reversed end-diastolic umbilical artery flow

An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow).


Palmar edema

An abnormal accumulation of fluid beneath the skin on the palm of the hand.


Stippled calcification of humeral metaphysis


Triangular shaped proximal phalanx of the 3rd finger

Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Interlobular vein intima/media necrosis

Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney.


Elevated myocardial native T1

Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity.


Osteolytic defects of the phalanges of the 4th toe


Endogenous lipoid pneumonia

A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.


Type II pneumocyte hypertrophy

Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin.


Lymph node necrosis

Areas of necrotic tissue within a lymph node.


incisors, lower central, absence of

Agenesis of lower secondary incisor or lower primary incisor.


Pleomorphic cholangitis

Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.


Cystic artery pseudoaneurysm

Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.


embryonal rhabdomyosarcoma

A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.


Reduced epidermal collagen IV protein expression


teeth present at birth

A tooth present at birth or erupting within the first month of life.


Decreased platelet thromboxane A2 receptor

Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).


Abnormality of the larynx

An abnormality of the larynx.


Abnormal anatomic location of the heart

Developmental defect characterized by an anomalous anatomic location of the heart.


Decreased hemoglobin concentration

An abnormal reduction below normal hemoglobin concentration in the circulation.


Abnormal platelet alpha granule secretion

Abnormal release of alpha granule contents from platelets.


Abnormal mast cell morphology

Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.


Abnormal circulating haptoglobin concentration

A deviation from the normal concentration of haptoglobin in the blood circulation.


Anti-titin antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin.


Symphalangism of the thumb

Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.


congenital microgastria

Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.


Bicuspid pulmonary valve

The presence of a bicuspid pulmonary valve.


Exercise-induced muscle fatigue

An abnormally increased tendency towards muscle fatigue induced by physical exercise.


Joint contracture of the hand

Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.


spermatic cord torsion

An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue.


Diffuse swelling of cerebral white matter


Aplasia/Hypoplasia involving the musculature of the extremities


Shortening of all phalanges of fingers

Abnormal reduction in length affecting all phalanges.


Sydney crease

Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.


Profound hearing impairment

A profound (essentially complete) form of hearing impairment.


Decreased specific anti-polysaccharide antibody level

The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.


Focal aware emotional seizure

A focal emotional seizure during which awareness is retained throughout the seizure.


Lateral femoral bowing

A lateral bending or abnormal curvature of the femur.


His bundle tachycardia

His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.


Pulmonary interstitial high-resolution computed tomography abnormality

High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities.


Symphalangism of the 4th finger

Fusion of two or more bones of the 4th finger.


Cellular non-specific interstitial pneumonia

A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia.


Shortening of all proximal phalanges of the fingers

Congenital hypoplasia of proximal phalanx of finger or all fingers.


Mucinous gastric carcinoma

A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.


Addictive stimulant use

Addiction to a stimulant drug is defined as a drug that typically increases alertness, attention, and energy while also elevating blood pressure, heart rate, and breathing.


Eruptive vellus hair cyst

A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.


Bullet-shaped proximal phalanx of the 5th finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected.


Moderate generalized osteoporosis

Moderate osteoporosis.


Organic aciduria

Excretion of non-amino organic acids in urine.


Abnormality of the epiphysis of the proximal phalanx of the 4th finger


Limited mobility of proximal interphalangeal joint


Renal cortical interstitial inflammation

Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells.


Abnormality of the vasculature

An abnormality of the vasculature.