A clinicopathologic study of autosomal dominant optic atrophy.
Of a family with 40 members, 12 had autosomal dominant optic atrophy. The affected members were aware of reduced vision from the first decade. Visual loss was moderate to severe, 6/12 (20/40) to 3/60 (10/200). The affected members showed similar centrocecal scotomata. Most affected patients had severe unclassified color defects. Electroretinography measurements were normal in all but one patient who had a small reduction in the scotopic response. The pathologic changes in a patient with autosomal dominant optic atrophy showed diffuse atrophy of the ganglion cell layer of the retina with a loss of myelin and nerve tissue within the optic nerves. We suggest that autosomal dominant atrophy is a primary degeneration of retinal ganglion cells.
D000328:Adult; D002648:Child; D003117:Color Vision Defects / Q000150:complications / Q000235:genetics; D003711:Demyelinating Diseases / Q000473:pathology; D004596:Electroretinography; D005260:Female; D005724:Ganglia / Q000473:pathology; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009900:Optic Nerve / Q000473:pathology* / Q000648:ultrastructure; D010375:Pedigree; D012160:Retina / Q000473:pathology; D012607:Scotoma / Q000209:etiology; D014794:Visual Fields