Retinal Dystrophy with or without Extraocular Anomalies

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - RDEOA