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先天性眼球震颤——遗传及环境因素

Congenital nystagmus--genetic and environmental causes.

作者信息

Pearce W G

出版信息

Can J Ophthalmol. 1978 Jan;13(1):1-9.

PMID:305814
Abstract

A survey of 40 individuals registered with the Canadian National Institute for the Blind (CNIB) as blind from congenital nystagmus revealed that an abnormal single gene was responsible for the disorder in 33 patients. Fifteen of these were due to autosomal recessive conditions while X-linked disorders accounted for another 15 patients. In 3 cases the pedigrees were consistent with both autosomal recessive or X-linked inheritance. A clearly defined environmental origin was present in 1 case while specific genetic or environmental factors were not detected in the remaining six patients. The albinism, achromatopsia and Leber's congenital amaurosis groups of disorders were those most frequently detected.

摘要

一项针对40名在加拿大国家盲人研究所(CNIB)登记为先天性眼球震颤致盲的个体的调查显示,33名患者的这种疾病是由单个异常基因导致的。其中15例是常染色体隐性疾病,X连锁疾病占另外15例患者。3例患者的谱系符合常染色体隐性或X连锁遗传。1例存在明确的环境起源,其余6名患者未检测到特定的遗传或环境因素。白化病、全色盲和莱伯先天性黑蒙症组疾病是最常检测到的。

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