X-LINKED OCULAR ALBINISM - CHARACTERISTIC PATTERN OF AFFECTION IN FEMALE CARRIERS

被引：48
|
作者：
LANG, GE
ROTT, HD
PFEIFFER, RA
机构：
来源：
OPHTHALMIC PAEDIATRICS AND GENETICS | 1990年 / 11卷 / 04期
关键词：
X-LINKED OCULAR ALBINISM; X-INACTIVATION; CARRIER DETECTION;
D O I：
10.3109/13816819009015712
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
The authors report on a family with X-linked ocular albinism. Examined were one of three affected males and eight females. Six women were carriers and showed iris retroillumination and typical abnormalities of the fundus. The patchy or striated hypopigmentation of the retinal pigment epithelium is thought to be due to random inactivation of the paternal or maternal X-chromosome respectively. The pattern of affection however represents a nonrandom embryological developmental pattern of the retinal pigment epithelium.
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页码：265 / 271
页数：7
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