Retinal dystrophy and macular coloboma.
Seven cases of retinal dystrophy associated with bilateral macular colobomata are presented. Two separate entities were found. The first is a congenital onset pigmentary retinopathy similar in electrophysiologic findings and symptoms to typical Leber's congenital amaurosis; the second appears to be a form of pregressive cone-rod dystrophy with pigmentary retinopathy. Review of the pertinant literature and clinical evidence suggest that both conditions are distinct entities inherited in the autosomal recessive manner.
D000293:Adolescent; D000328:Adult; D003103:Coloboma / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D008266:Macula Lutea / Q000002:abnormalities*; D008297:Male; D012164:Retinal Diseases / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D012607:Scotoma / Q000150:complications; D014794:Visual Fields