Coloboma, Ocular, Autosomal Recessive (COAR)

Coloboma, Ocular, Autosomal Recessive, also known as coar, is related to coloboma, ocular, autosomal dominant and hypercholesterolemia, familial, 1. An important gene associated with Coloboma, Ocular, Autosomal Recessive is SALL2 (Spalt Like Transcription Factor 2). Affiliated tissues include eye and retina, and related phenotypes are nystagmus and reduced visual acuity