Ankara City Hospital, Clinic of Ophthalmology, Ankara, Turkey.
Niğde Ömer Halisdemir University Faculty of Medicine, Department of Ophthalmology, Niğde, Turkey.
Turk J Ophthalmol. 2020 Aug 26;50(4):252-254. doi: 10.4274/tjo.galenos.2020.42815.
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.
X 连锁青少年性视网膜劈裂症（XLRS）是一种被认为仅发生于男性的疾病。本研究报告了一个近亲家庭，其中 3 名女性被诊断为 XLRS。2 名 4 岁和 15 岁的女孩出现了典型的 XLRS 征象。父亲和年龄最大的女儿（17 岁）的眼底检查显示双侧萎缩性黄斑和视网膜变薄。尽管 XLRS 在中东国家较为罕见且被认为仅发生于男性，但在这些高近亲结婚率的国家，女性也可能患病。眼科医生可能会忽略这一点，导致这些患者被误诊。
