A clinicopathologic study of autosomal dominant optic atrophy.
PB Johnston, RN Gaster, VC Smith… - American journal of …, 1979 - europepmc.org
PB Johnston, RN Gaster, VC Smith, RC Tripathi
American journal of ophthalmology, 1979•europepmc.orgOf 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 …
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 …
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.
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