Retinal cases & brief reports · 2024
MANAGEMENT OF A UNIQUE CASE OF COATS'-LIKE X-LINKED RETINITIS PIGMENTOSA ASSOCIATED WITH AN RPGR VARIANT IN THE ERA OF ANTI-VASCULAR ENDOTHELIUM GROWTH FACTOR.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Pederzolli Matteo, Sacconi Riccardo, Bandello Francesco, Querques Giuseppe
Аннотация
PURPOSE: To describe a unique case of X-linked Coats'-like retinitis pigmentosa, a form of exudative retinitis pigmentosa, in association with an RPGR variant, and its management with intravitreal anti-vascular endothelium growth factor drugs, along with a peculiar optical coherence tomography finding observed in a late stage of disease.
METHODS: Case report.
RESULTS: A 33-year-old man previously treated with anti-vascular endothelium growth factors for macular edema came to our clinic for bilateral visual loss. A hemizygous RPGR variant (c.2442_2445del) was found and a diagnosis of Coats'-like Retinitis Pigmentosa was made. He was initially treated with carbonic anhydrase inhibitors; when efficacy wore off, he was switched to anti-vascular endothelium growth factor injections in both eyes with improvement. After a year without treatment, VA drastically worsened in both eyes; optical coherence tomography displayed disruption and increased hyper-reflectivity of the inner retinal layers in the right eye.
CONCLUSION: The c.2442_2445del variant is added to a number of known ORF 15 RPGR mutations associated with Coats'like Retinitis Pigmentosa. Anti-vascular endothelium growth factor treatment was successful in blocking visual loss in our patient and withholding treatment had a negative impact on his visual outcome.
METHODS: Case report.
RESULTS: A 33-year-old man previously treated with anti-vascular endothelium growth factors for macular edema came to our clinic for bilateral visual loss. A hemizygous RPGR variant (c.2442_2445del) was found and a diagnosis of Coats'-like Retinitis Pigmentosa was made. He was initially treated with carbonic anhydrase inhibitors; when efficacy wore off, he was switched to anti-vascular endothelium growth factor injections in both eyes with improvement. After a year without treatment, VA drastically worsened in both eyes; optical coherence tomography displayed disruption and increased hyper-reflectivity of the inner retinal layers in the right eye.
CONCLUSION: The c.2442_2445del variant is added to a number of known ORF 15 RPGR mutations associated with Coats'like Retinitis Pigmentosa. Anti-vascular endothelium growth factor treatment was successful in blocking visual loss in our patient and withholding treatment had a negative impact on his visual outcome.