Management of a unique case of Coats'-like X-linked retinitis pigmentosa associated with a RPGR variant in the era of anti-VEGF.

Abstract

To describe a unique case of X-linked Coats-like Retinitis Pigmentosa (CLRP), a form of exudative Retinitis Pigmentosa, in association with a RPGR variant, and its management with intravitreal anti-Vascular Endothelium Growth Factor drugs (anti-VEGFs), along with a peculiar OCT finding observed in a late stage of disease. Case report. A 33-year-old man previously treated with anti-VEGFs for macular edema came to our clinic for bilateral visual loss. A hemizygous RPGR variant (c.2442_2445del) was found and a diagnosis of CLRP was made. He was initially treated with carbonic anhydrase inhibitors; when efficacy wore off, he was switched to anti-VEGF injections in both eyes with improvement. After a year without treatment, visual acuity drastically worsened in both eyes; optical coherence tomography displayed disruption and increased hyperreflectivity of the inner retinal layers in the right eye. The c.2442_2445del variant is added to the number of known ORF 15 RPGR mutations associated with CLRP. Anti-VEGF treatment was successful in blocking visual loss in our patient and withholding treatment had a negative impact on his visual outcome.