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先天性白内障合并小角膜及彼得异常作为一种常染色体显性基因的表现形式。

Congenital cataract with microcornea and Peters' anomaly as expressions of one autosomal dominant gene.

作者信息

Green J S, Johnson G J

出版信息

Ophthalmic Paediatr Genet. 1986 Dec;7(3):187-94. doi: 10.3109/13816818609004137.

Abstract

Hereditary congenital cataract is a well recognized but heterogeneous group of disorders; the cataracts may occur alone, or with other ocular or systemic abnormalities, and with all three common modes of inheritance. Peters' anomaly has usually been regarded as a sporadic condition with an insignificant risk of recurrence. A family is described in which congenital cataracts with microcornea, and Peters' anomaly, appear to be variable expressions of a generalized anterior segment disorder inherited as an autosomal dominant condition.

摘要

遗传性先天性白内障是一组已被充分认识但具有异质性的疾病;白内障可能单独出现,或伴有其他眼部或全身异常,并存在所有三种常见的遗传方式。彼得斯异常通常被视为一种散发性疾病,复发风险极小。本文描述了一个家族,其中先天性白内障合并小角膜以及彼得斯异常似乎是一种常染色体显性遗传的广泛性眼前节疾病的不同表现形式。

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