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先天性小瞳孔症和前房角发育异常的遗传病例。

Hereditary cases of congenital microcoria and goniodysgenesis.

作者信息

Mazzeo V, Gaiba G, Rossi A

出版信息

Ophthalmic Paediatr Genet. 1986 Aug;7(2):121-5. doi: 10.3109/13816818609076120.

Abstract

Presented here are hereditary cases of congenital microcoria associated with goniodysgenesis. The proband was a 64 year-old woman with poor development of collarettes and crypts of the iris. Gonioscopic examination revealed anterior chamber irregularities. Three out of six of her siblings suffered from the same anterior chamber anomaly but did not have glaucoma. All the affected members had microcoria associated with goniodysgenesis which was transmitted in an autosomal dominant pattern.

摘要

本文介绍了与前房角发育异常相关的先天性小瞳孔遗传病例。先证者是一名64岁女性,虹膜皱襞和隐窝发育不良。前房角镜检查显示前房不规则。她的六个兄弟姐妹中有三个患有相同的前房异常,但没有青光眼。所有受影响的成员都患有与前房角发育异常相关的小瞳孔,呈常染色体显性遗传模式。

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