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常染色体显性遗传性渗出性玻璃体视网膜病变

Autosomal dominant exudative vitreoretinopathy.

作者信息

Ober R R, Bird A C, Hamilton A M, Sehmi K

出版信息

Br J Ophthalmol. 1980 Feb;64(2):112-120. doi: 10.1136/bjo.64.2.112.

Abstract

Twelve affected members from 3 families with autosomal dominant exudative vitreouretinopathy were examined, and the following conclusions were drawn: (1) There is great variability in the phenotypic expression of the abnormal gene, such that many patients have very mild disease which can be detected with certainty only by fluorescein angiography. (2) Gene penetrance is close to 100%. (3) Progress of fundus changes and visual threat is rare after 20 years of age.

摘要

对3个患有常染色体显性遗传性渗出性玻璃体视网膜病变的家族中的12名患病成员进行了检查,并得出以下结论:(1)异常基因的表型表达存在很大差异,以至于许多患者的病情非常轻微,只有通过荧光素血管造影才能确切检测到。(2)基因外显率接近100%。(3)20岁以后眼底病变进展和视力受威胁的情况很少见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8b2/1039360/e26c25d8eb0a/brjopthal00194-0045-a.jpg

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