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.

Management of a unique case of Coats'-like X-linked retinitis pigmentosa associated with a RPGR variant in the era of anti-VEGF / Pederzolli, Matteo; Sacconi, Riccardo; Bandello, Francesco; Querques, Giuseppe. - In: RETINAL CASES & BRIEF REPORTS. - ISSN 1935-1089. - (2023). [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

Pederzolli, Matteo
Primo
;
Sacconi, Riccardo
Secondo
;
Bandello, Francesco
Penultimo
;
Querques, Giuseppe
Ultimo
2023-01-01

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11768/148917
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