X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity

被引：3

作者：

Onen, Mehmet ^{[1
]}

Zor, Kursat ^{[2
]}

Kucuk, Erkut ^{[2
]}

Yildirim, Gamze ^{[3
]}

机构：

[1] Ankara City Hosp, Clin Ophthalmol, Ankara, Turkey

[2] Nigde Omer Halisdemir Univ, Dept Ophthalmol, Fac Med, Nigde, Turkey

[3] Nigde Omer Halisdemir Training & Res Hosp, Clin Ophthalmol, Nigde, Turkey

来源：

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY | 2020年 / 50卷 / 04期

关键词：

X-linked retinoschisis; consanguineous marriage; cystoid macular edema; macular atrophy; optical coherence tomography;

D O I：

10.4274/tjo.galenos.2020.42815

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

X-linked juvenile retinoschisis (XLRS) is a disease considered characteristic for males. In this study we report a consanguineous family in which 3 daughters were diagnosed with XLRS. Typical signs of XLRS were detected in 2 girls, aged 4 and 15. Fundoscopic examination of the father and the oldest daughter (age 17) revealed bilateral atrophic macula and retinal thinning. Although rare and considered characteristic for males, XLRS can be seen in females in Middle-East countries that have a high rate of consanguineous marriage. It can be overlooked by ophthalmologists and these patients may be misdiagnosed.

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收藏

页码：252 / 254

页数：3

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