X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity
Journal Title: Turkish Journal of Ophthalmology - Year 2020, Vol 50, Issue 4
Abstract
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.
Authors and Affiliations
Mehmet Önen, Kürşat Zor, Erkut Küçük, Gamze Yıldırım
Keywords
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- EP ID EP688847
- DOI 10.4274/tjo.galenos.2020.42815
- Views 192
- Downloads 0
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