Familial bilateral macular colobomata.
A mother and daugher had a life-long history of poor vision and photophobia, bilateral macular colobomata, and retinal pigment epithelial abnormalities; psychoelectrophysiological testing indicated extensive loss of cone or cone-rod function. These cases suggest this is a genetically determined condition unrelated to infection.
D000293:Adolescent; D000328:Adult; D003103:Coloboma / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D008266:Macula Lutea / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree