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一个希腊家庭中的单纯性虹膜缺损。

Simple iris coloboma in a Greek family.

作者信息

Konstas A G, Bufidis T, Kardasopoulos A

机构信息

University Department of Ophthalmology, AHEPA Hospital, Thessaloniki, Greece.

出版信息

Acta Ophthalmol Scand. 1996 Feb;74(1):89-92. doi: 10.1111/j.1600-0420.1996.tb00691.x.

Abstract

We report the presence of simple iris coloboma in 4 out of 5 female members comprising four generations of a Greek family. A varied degree of simple iris coloboma (i.e. not associated with a choroidal coloboma) was present in one eye of the maternal grandmother, mother, daughter and one out of 2 granddaughters of this family. The iris colobomata were associated with congenital lens opacities in 2 out of 4 of the females, macular degenerative changes in 2 cases and ocular hypertension in one case. The pathogenesis, heredity and associations of simple iris colobomata is discussed.

摘要

我们报告了一个希腊家族四代人中5名女性成员中有4人存在单纯性虹膜缺损。该家族的外祖母、母亲、女儿以及2名孙女中的1人,一只眼睛存在不同程度的单纯性虹膜缺损(即不伴有脉络膜缺损)。4名女性中有2人虹膜缺损伴有先天性晶状体混浊,2例有黄斑退行性变,1例有高眼压。本文讨论了单纯性虹膜缺损的发病机制、遗传及相关情况。

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