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与遗传性共济失调相关的萎缩性黄斑病变

Atrophic maculopathy associated with hereditary ataxia.

作者信息

Duinkerke-Eerola K U, Cruysberg J R, Deutman A F

出版信息

Am J Ophthalmol. 1980 Nov;90(5):597-603. doi: 10.1016/s0002-9394(14)75125-6.

Abstract

Two siblings had atrophic maculopathy associated with hereditary ataxia clinically defined as an olivopontocerebellar degeneration. The macular changes were suggestive of an early bull's-eye maculopathy in one case and of a late atrophic stage of bull's-eye maculopathy in the other. This suggests that concentric annular (bull's-eye) macular dystrophy may occur as part of olivopontocerebellomacular degeneration. Exogenous causes were excluded. The inheritance pattern was autosomal recessive or irregular autosomal dominant. The relationship of these two degenerative disorders is not yet clear. This combination of findings has been, to our knowledge, only rarely described.

摘要

两名患有萎缩性黄斑病变的兄弟姐妹伴有遗传性共济失调,临床诊断为橄榄体脑桥小脑变性。其中一例黄斑改变提示早期靶心样黄斑病变,另一例提示靶心样黄斑病变的晚期萎缩阶段。这表明同心环形(靶心样)黄斑营养不良可能是橄榄体脑桥小脑黄斑变性的一部分。已排除外部病因。遗传模式为常染色体隐性或不规则常染色体显性。这两种退行性疾病之间的关系尚不清楚。据我们所知,这种综合表现很少被描述。

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