CLINICOPATHOLOGIC STUDY OF AUTOSOMAL DOMINANT OPTIC ATROPHY

被引：137
作者：
JOHNSTON, PB [1 ]
GASTER, RN [1 ]
SMITH, VC [1 ]
TRIPATHI, RC [1 ]
机构：
[1] UNIV CHICAGO, DEPT OPHTHALMOL, CHICAGO, IL 60637 USA
来源：
AMERICAN JOURNAL OF OPHTHALMOLOGY | 1979年 / 88卷 / 05期
关键词：
D O I：
10.1016/0002-9394(79)90565-8
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
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. © 1979.
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收藏
页码：868 / 875
页数：8
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