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

Author:

Giansanti Fabrizio12ORCID,Nicolosi Cristina12ORCID,Giorgio Dario23,Sodi Andrea1,Mucciolo Dario Pasquale1ORCID,Pavese Laura2,Pollazzi Liliana1,Virgili Gianni12ORCID,Vicini Giulio23ORCID,Passerini Ilaria4ORCID,Pelo Elisabetta4,Murro Vittoria12

Affiliation:

1. Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy

2. Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy

3. Azienda USL Toscana Nordovest, 56121 Pisa, Italy

4. SODc Diagnostica Genetica, Careggi University Hospital, 50134 Florence, Italy

Abstract

Purpose: 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. Case description: 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. Conclusions: 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.

Funder

Italian Ministry of Health, the Tuscany Region, and the Sicily Region

Publisher

MDPI AG

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