Probable autosomal dominant optic atrophy with hearing loss.
The seventh family manifesting an entity described as automosal dominant optic atrophy with hearing loss is reported here. This disorder shows great inter- and intrafamilial variation in the onset time and the degree of loss of both vision and hearing. Unlike autosomal dominant optic atrophy without hearing loss, it appears to be associated with a red-green (deutan) defect in color vision.
D000328:Adult; D000367:Age Factors; D003118:Color Perception; D005260:Female; D005799:Genes, Dominant; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009896:Optic Atrophy / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree