Background

X-linked retinitis pigmentosa (XLRP) is a hereditary retinopathy that may present with cystoid macular edema (CME). The exact cause of CME in XLRP is unknown. We describe a case report of new-onset CME precipitated by travel to high altitude in an adult with XLRP, but no known prior history of CME.

Case Description

A 38-year-old man with XLRP caused by a hemizygous pathogenic variant in RPGR (c.372del; p.Glu125fs) reported sudden onset bilateral blurry vision 4 days after ascending to an altitude of 3,700 m. He sought local ophthalmic care and was found to have severe bilateral CME. He was treated with topical and oral carbonic anhydrase inhibition and instructed to return to normal altitude. Follow-up imaging at normal altitude revealed that the CME was nearly completely resolved 4 days after initial presentation, and completely resolved 2 weeks after initial presentation.

Conclusion

Vascular and metabolic changes caused by retinal degeneration in XLRP may predispose to the development of CME under the hypoxic conditions experienced at high altitudes. We advise that retinal specialists treating patients with RP should caution them on traveling to high altitudes that could precipitate or exacerbate CME.

中文翻译：

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X连锁性视网膜色素变性患者的海拔高度会导致囊状黄斑水肿。

背景

X连锁性色素性视网膜炎（XLRP）是一种遗传性视网膜病，可能伴有囊状黄斑水肿（CME）。XLRP中CME的确切原因尚不清楚。我们描述了XLRP成年人因高海拔旅行而沉淀的新发病CME的病例报告，但尚无已知的CME既往史。

案例描述

一名由RPGR中的半合子致病性变异引起的XLRP的38岁男子（c.372del; p.Glu125fs）报告说，在上升到3700 m高度后4天突然出现双侧视力模糊。他寻求局部眼科护理，发现患有严重的双侧CME。他曾接受局部和口服碳酸酐酶抑制治疗，并被指示恢复到正常高度。在正常高度下的随访影像显示，CME在初次就诊后4天几乎完全消退，而在初次就诊后2周完全消退。

结论

XLRP引起的视网膜变性引起的血管和代谢变化可能是高海拔地区缺氧条件下CME发生的诱因。我们建议治疗RP的视网膜专家应警告他们前往可能沉淀或加剧CME的高海拔地区。