Myopic Macular Hole and Detachment after Gene Therapy in Atypical RPE65 Retinal Dystrophy: A Case Report

To report a case of macular hole and detachment occurring after the subretinal injection of Voretigene Neparvovec (VN) in a patient affected by atypical RPE65 retinal dystrophy with high myopia and its successful surgical management. We report a case of a 70-year-old man treated with VN in both eyes...

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Bibliographic Details
Published in:Genes 2024-07, Vol.15 (7), p.879
Main Authors: Giansanti, Fabrizio, Nicolosi, Cristina, Giorgio, Dario, Sodi, Andrea, Mucciolo, Dario Pasquale, Pavese, Laura, Pollazzi, Liliana, Virgili, Gianni, Vicini, Giulio, Passerini, Ilaria, Pelo, Elisabetta, Murro, Vittoria
Format: Article
Language:English
Subjects:
Acuity
Atrophy
Case reports
Ethylenediaminetetraacetic acid
Eye
Gene therapy
Genetic aspects
Genetic counseling
Genetic testing
Genomics
Injection
Mutation
Myopia
Retina
Retinal degeneration
Sulfur hexafluoride
Tamponade
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Summary:To report a case of macular hole and detachment occurring after the subretinal injection of Voretigene Neparvovec (VN) in a patient affected by atypical RPE65 retinal dystrophy with high myopia and its successful surgical management. We report a case of a 70-year-old man treated with VN in both eyes. The best corrected visual acuity (BCVA) was 0.7 LogMar in the right eye (RE) and 0.92 LogMar in the left eye (LE). Axial length was 29.60 mm in the RE and 30.28 mm in the LE. Both eyes were pseudophakic. In both eyes, fundus examination revealed high myopia, posterior staphyloma, and extended retinal atrophy areas at the posterior pole, circumscribing a central island of surviving retina. Both eyes were treated with VN subretinal injection, but a full-thickness macular hole and retinal detachment occurred in the LE three weeks after surgery. The patient underwent 23-gauge vitrectomy with internal limiting membrane (ILM) peeling and the inverted flap technique with sulfur hexafluoride (SF6) 20% tamponade. Postoperative follow-up showed that the macular hole was closed and the BCVA was maintained. Our experience suggests that patients with atypical RPE65 retinal dystrophy and high myopia undergoing VN subretinal injection require careful management to minimize the risk of macular hole and detachment occurrence and promptly detect and address these potential complications.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes15070879