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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.

DOI:10.1136/bjo.62.2.118
PMID:305786
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1043155/
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/e228/1043155/6f9ac37e6ae5/brjopthal00218-0050-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e228/1043155/ab44cfa11174/brjopthal00218-0047-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e228/1043155/810aa0864a31/brjopthal00218-0048-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e228/1043155/7b99c5bb331c/brjopthal00218-0048-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e228/1043155/0e1d8cf98dda/brjopthal00218-0049-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e228/1043155/6f9ac37e6ae5/brjopthal00218-0050-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e228/1043155/ab44cfa11174/brjopthal00218-0047-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e228/1043155/810aa0864a31/brjopthal00218-0048-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e228/1043155/7b99c5bb331c/brjopthal00218-0048-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e228/1043155/0e1d8cf98dda/brjopthal00218-0049-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e228/1043155/6f9ac37e6ae5/brjopthal00218-0050-a.jpg

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Morphometric analysis of the lens in human aniridia and mouse Small eye.人先天性无虹膜症和小鼠 Small eye 晶状体的形态计量分析。
Exp Eye Res. 2021 Feb;203:108371. doi: 10.1016/j.exer.2020.108371. Epub 2020 Nov 26.
3
Rare association of familial aniridia, microcornea with myopia and aphakia.

本文引用的文献

1
[Variability in the clinical manifestations of iris defect in 2 families with congenital aniridia].[2个先天性无虹膜家族中虹膜缺损临床表现的变异性]
Klin Monbl Augenheilkd Augenarztl Fortbild. 1961 May;138:545-57.
2
Simultaneous occurrence of congenital aniridia, hamartoma, and Wilms' tumor.先天性无虹膜、错构瘤和肾母细胞瘤同时出现。
J Pediatr. 1971 Mar;78(3):497-502. doi: 10.1016/s0022-3476(71)80233-0.
3
Frequent occurrence of hypoplastic optic disks in patients with aniridia.无虹膜患者中发育不全视盘的频繁出现。
家族性无虹膜、小角膜合并近视和无晶状体的罕见关联。
Middle East Afr J Ophthalmol. 2014 Jul-Sep;21(3):268-70. doi: 10.4103/0974-9233.134693.
4
Endoscope-assisted vitrectomy for retinal detachment in an eye with microcornea.内窥镜辅助下治疗小角膜眼视网膜脱离的玻璃体切除术。
Jpn J Ophthalmol. 2012 Nov;56(6):613-6. doi: 10.1007/s10384-012-0176-x. Epub 2012 Aug 28.
5
Inherited partial aniridia, microcornea with high myopia and Bergmeister's papilla: a new phenotypic expression.遗传性部分无虹膜、伴有高度近视的小角膜和贝格迈斯特乳头:一种新的表型表达。
Indian J Ophthalmol. 2008 Mar-Apr;56(2):145-6. doi: 10.4103/0301-4738.39120.
Am J Ophthalmol. 1974 Apr;77(4):513-6. doi: 10.1016/0002-9394(74)90464-4.