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无虹膜伴小角膜和晶状体半脱位。

Aniridia associated with microcornea and subluxated lenses.

作者信息

David R, MacBeath L, Jenkins T

出版信息

Br J Ophthalmol. 1978 Feb;62(2):118-21. doi: 10.1136/bjo.62.2.118.

Abstract

Four cases of aniridia associated with subluxated lenses and microcornea are presented. The triad occurred in both eyes of the 4 affected members in one Ndebele family (one of the South African Negro tribes). No other ocular or systemic defects were noted, and intelligence was normal. Chromosomal studies on both parents showed no abnormality, and gene marker studies failed to reveal any linkage between the disease locus and a wide range of polymorphic loci.

摘要

本文报告了4例无虹膜合并晶状体半脱位和小角膜的病例。在一个恩德贝勒家族(南非黑人部落之一)的4名患病成员中,双眼均出现了这三联征。未发现其他眼部或全身缺陷,智力正常。对双亲进行的染色体研究未发现异常,基因标记研究也未能揭示疾病位点与广泛的多态性位点之间存在任何连锁关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e228/1043155/ab44cfa11174/brjopthal00218-0047-a.jpg

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