label: Retinal Dystrophy with or without Extraocular Anomalies
label_lc: retinal dystrophy with or without extraocular anomalies
description: "An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present."