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脆性X综合征中的眼部异常。

Ocular anomalies in fragile X syndrome.

作者信息

Maino D M, Schlange D, Maino J H, Caden B

机构信息

Illinois College of Optometry, Chicago 60616.

出版信息

J Am Optom Assoc. 1990 Apr;61(4):316-23.

PMID:2189924
Abstract

Fragile X (fra[X]) syndrome is a newly discovered, but relatively common, genetic disorder with an estimated frequency of 1:1000. Several ocular dysfunctions may be associated with this syndrome, but there are few articles that fully report on these. A review of this genetic disorder is provided, as well as a discussion of a case review of a family with three siblings with fragile X syndrome. Since this disorder is the most common familial cause of mental retardation, is second only to Down's syndrome as a genetic cause for mental retardation, and may play a significant role in learning disabilities, the eye care practitioner should be aware of its importance.

摘要

脆性X综合征(fra[X])是一种新发现但相对常见的遗传性疾病,估计发病率为1:1000。该综合征可能与多种眼部功能障碍有关,但全面报道这些情况的文章较少。本文对这种遗传性疾病进行了综述,并对一个有三名患有脆性X综合征的兄弟姐妹的家庭案例进行了讨论。由于这种疾病是智力发育迟缓最常见的家族性病因,作为智力发育迟缓的遗传病因仅次于唐氏综合征,并且可能在学习障碍中起重要作用,眼科医生应意识到其重要性。

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