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

Matteo Pederzolli; Riccardo Sacconi; Francesco Bandello; Giuseppe Querques

doi:10.1097/ICB.0000000000001426

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

Retin Cases Brief Rep. 2023 Mar 28. doi: 10.1097/ICB.0000000000001426. Online ahead of print.

Authors

Matteo Pederzolli^{1

2}, Riccardo Sacconi^{1

2}, Francesco Bandello^{1

2}, Giuseppe Querques^{1

2}

Affiliations

¹ School of Medicine, Vita-Salute San Raffaele University, Milan, Italy.
² Division of head and neck, Ophthalmology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.

PMID: 36996441
DOI: 10.1097/ICB.0000000000001426

Abstract

Purpose: 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.

Methods: Case report.

Results: 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.

Conclusion: 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.