CLINICOPATHOLOGIC STUDY OF AUTOSOMAL DOMINANT OPTIC ATROPHY
CLINICOPATHOLOGIC STUDY OF AUTOSOMAL DOMINANT OPTIC ATROPHY
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DOI：
10.1016/0002-9394(79)90565-8
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发表时间：
1979-01-01
影响因子：
4.2
通讯作者：
TRIPATHI, RC
中科院分区：
文献类型：
--
作者：
JOHNSTON, PB;GASTER, RN;TRIPATHI, RC
在一个40人的家系中，12人为常染色体显性视神经萎缩。受影响的成员从第一个十年开始就意识到视力下降。视力丧失为中度至重度，6/12（20/40）至3/60（10/200）。受影响的成员表现出类似的中心盲暗点。大多数受影响的患者有严重的未分类的颜色缺陷。除1例患者暗视反应略有减少外，其余患者视网膜电图测量均正常。1例常染色体显性视神经萎缩患者的病理变化显示视网膜神经节细胞层弥漫性萎缩，伴有视神经内髓鞘和神经组织丢失。常染色体显性遗传性萎缩似乎是视网膜神经节细胞的原发性变性。
Of a family with 40 members 12 had autosomal dominant optic atrophy. The affected members were aware of reduced vision from the 1st 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 1 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. Autosomal dominant atrophy appears to be a primary degeneration of retinal ganglion cells.