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[玻璃体视网膜脉络膜遗传性营养不良、小角膜、青光眼和白内障]

[Vitreoretinochoroidal heredo-dystrophy, microcornea, glaucoma and cataract].

作者信息

François P, Puech B, Hache J C, Laffineur Q

机构信息

Clinique Ophtalmologique de Lille, CHRU.

出版信息

J Fr Ophtalmol. 1993;16(1):29-40.

PMID:8482797
Abstract

Vitreoretinochoroidopathy with microcornea, glaucoma and cataract must be considered to be a distinctively autosomal dominant affection. The authors present evidence in the form of 18 carriers of the same anomaly detected with a pedigree extending up to six generations. Microcornea and vitreoretinochoroidal dystrophy are the prime characteristics; hypertonia and cataract are induced complications. The syndrome may be attributed to a hereditary dysgenesis affecting the anterior part of the globe with trabecular and preequatorial corneal alterations. The dystrophy has a slow development as shown by the clinical and electroretinographic course. Present treatment only consists of controlling ocular hypertonia and cataract.

摘要

伴有小角膜、青光眼和白内障的玻璃体视网膜脉络膜病变必须被视为一种独特的常染色体显性遗传病。作者以18名携带相同异常的携带者为例,这些携带者的家系延续了六代。小角膜和玻璃体视网膜脉络膜营养不良是主要特征;高眼压和白内障是引发的并发症。该综合征可能归因于一种遗传性发育异常,影响眼球前部,伴有小梁和赤道前角膜改变。如临床和视网膜电图病程所示,这种营养不良发展缓慢。目前的治疗仅包括控制眼压和白内障。

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