Author: Vittoria Murro
Co-authors: Dario Pasquale Mucciolo, Dario Giorgio, Andrea Sodi, Ilaria Passerini, Laura Pavese, Elisabetta Pelo, Gianni Virgili, Fabrizio Giansanti
Abstract
Purpose: To present functional and morphological outcomes of 4 Italian patients with RPE65-related inherited retinal dystrophy (RPE65-IRD) treated with Voretigene Neparvovec (VN).Setting/Venue: Careggi Hospital, University of Florence (Italy)
Methods: Four patients (8 eyes) with RPE65-IRD were treated with VN in both eyes at the Careggi Hospital in Florence.All patients underwent a complete ophthalmological examination and were evaluated by best-corrected visual acuity(BCVA),reading ability (MNREAD charts), contrast sensitivity Pelli-Robson charts, fixation study (MP1 microperimeter),and VRQOL (25-item National Eye Institute Visual Function Questionnaire [NEI VFQ-25]), color fundus photography(CFP), fundus autofluorescence imaging (FAF), full-field stimulus threshold (FST) test, visual field (GVF), full field standard electroretinography (ff-ERG) and structural OCT examination over 6 months.
Results: The mean age of patients was 30,5±18,6 (range 12-55 yrs). Two patients were male and 2 females.
At baseline, ERG response was extinguished in all patients; mean BCVA was 1,37±0,77 (range 0,6-2,1). No clinically meaningful change in the mean BCVA was observed over 6 months of follow-up. At baseline, the mean foveal thickness was 161,3± 82,7 (range 106-334) with no significant changes during follow-up. One patient presented nystagmus. At baseline, the outer nuclear layer (ONL) was bilaterally present in 2 patients (the youngest patients). The ellipsoid band was bilaterally detectable in 2 patients and absent in 2 patients.Visual field examination did not show any significant changes during follow-ups in all patients. The FST showed clinically significant improvements in all treated eyes (change of light sensitivity > 15 decibels). At 6-month-follow-up, the occurrence of retinal atrophy was bilaterally reported at the injection site in 1 patient and in the perifoveal area in another patient. The development of chorioretinal atrophy was not associated with central vision impairment and didnot have a functional impact in the treated patients.
Conclusions: Patients with RPE-65-related retinal dystrophy treated with VN showed a substantial stability in the visual outcomes and an increase in the mean retinal sensitivity measured using FST test over 6 months follow-ups.Chorioretinal atrophy enlarged during follow-ups in 2 patients (4 treated eyes).
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