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X 连锁青年性视网膜劈裂症于一青年女性。

X-linked Juvenile Retinoschisis in a Young Female.

机构信息

Bharatpur Eye Hospital, Chitwan, Nepal.

Nepal Eye Hospital, Kathmandu, Nepal.

出版信息

J Nepal Health Res Counc. 2022 Jun 3;20(1):260-264. doi: 10.33314/jnhrc.v20i01.3757.

Abstract

X-linked juvenile retinoschisis has recessive inheritance which occurs due to RS1 gene mutation. We report an instance in a female managed with systemic and topical carbonic-anhydrase inhibitors. 18-year female presented with bilateral blurred vision for two years. Best corrected vision was 6/24 right eye and 6/12 left eye. Fundus examination, ocular coherence tomography and fundus fluorescein angiography supported the diagnosis. Systemic and topical carbonic-anhydrase inhibitors were advised and followed for six months with scrutinization of possible adverse drug reaction. Juvenile retinoschisis being rare among females, prompt diagnosis and management helps for the restoration of the vision and foveal anatomy. Keywords: Carbonic anhydrase inhibitors; female; retinoschisin ; X linked juvenile retinoschisis.

摘要

X 连锁青年性视网膜劈裂症呈隐性遗传,由 RS1 基因突变引起。我们报告了一例女性患者,采用全身和局部碳酸酐酶抑制剂治疗。患者女性,18 岁,双眼视力模糊 2 年。右眼最佳矫正视力为 6/24,左眼为 6/12。眼底检查、眼部相干断层扫描和眼底荧光血管造影支持该诊断。建议使用全身和局部碳酸酐酶抑制剂,并在 6 个月内进行密切观察,以检查可能的药物不良反应。女性中 X 连锁青年性视网膜劈裂症较为罕见,及时诊断和治疗有助于恢复视力和黄斑解剖结构。关键词:碳酸酐酶抑制剂;女性;视网膜裂孔蛋白;X 连锁青年性视网膜劈裂症。

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