Cystoid macular edema precipitated by altitude in a patient with X-linked retinitis pigmentosa

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.

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.

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.