Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy
Abstract To report quantitative retinal changes assessed by spectral-domain optical coherence tomography (SD-OCT) in children treated with voretigene neparvovec (VN) at a single center in Italy. Retrospective review of six consecutive pediatric patients with biallelic RPE65-related dystrophy treated...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2022-10-01
|
| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-022-22180-6 |
| _version_ | 1797986049704591360 |
|---|---|
| author | Francesco Testa Paolo Melillo Valentina Di Iorio Claudio Iovino Francesco Farinaro Marianthi Karali Sandro Banfi Settimio Rossi Michele Della Corte Francesca Simonelli |
| author_facet | Francesco Testa Paolo Melillo Valentina Di Iorio Claudio Iovino Francesco Farinaro Marianthi Karali Sandro Banfi Settimio Rossi Michele Della Corte Francesca Simonelli |
| author_sort | Francesco Testa |
| collection | DOAJ |
| description | Abstract To report quantitative retinal changes assessed by spectral-domain optical coherence tomography (SD-OCT) in children treated with voretigene neparvovec (VN) at a single center in Italy. Retrospective review of six consecutive pediatric patients with biallelic RPE65-related dystrophy treated bilaterally with VN. SD-OCT scans were analyzed to extract Early Treatment Diabetic Retinopathy Study (ETDRS) thickness maps of the whole retina and the outer nuclear layer (ONL). Changes in visual function were assessed by best-corrected visual acuity (BCVA) and retinal morphology at Days 30/45 and 180. BCVA significantly improved at Day 30/45 and 6 months (both P < 0.001). Central foveal retinal thickness and central foveal ONL thickness tended to increase (6.4 ± 19.2 µm; P = 0.080 and 3.42 ± 7.68 µm; P = 0.091, respectively). ONL thickness of the internal ETDRS-ring significantly increased at day 30/45 (4.7 ± 8.4 µm; P < 0.001) and day 180 (5.0 ± 5.7 µm; P = 0.009). Intra-operative foveal detachment was not associated with a higher function gain in terms of BCVA, but with a mild thinning of foveal ONL after treatment. The improvement of BCVA and thickening of the ONL layer suggest that improvement of visual acuity could be related to partial recovery of retinal morphology in the perifoveal ring. |
| first_indexed | 2024-04-11T07:26:56Z |
| format | Article |
| id | doaj.art-d75fea87d0de4eedb5f9c2696f901e75 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-04-11T07:26:56Z |
| publishDate | 2022-10-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-d75fea87d0de4eedb5f9c2696f901e752022-12-22T04:37:02ZengNature PortfolioScientific Reports2045-23222022-10-011211910.1038/s41598-022-22180-6Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophyFrancesco Testa0Paolo Melillo1Valentina Di Iorio2Claudio Iovino3Francesco Farinaro4Marianthi Karali5Sandro Banfi6Settimio Rossi7Michele Della Corte8Francesca Simonelli9Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi VanvitelliEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi VanvitelliEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi VanvitelliEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi VanvitelliEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi VanvitelliEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi VanvitelliMedical Genetics, Department of Precision Medicine, University of Campania Luigi VanvitelliEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi VanvitelliEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi VanvitelliEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi VanvitelliAbstract To report quantitative retinal changes assessed by spectral-domain optical coherence tomography (SD-OCT) in children treated with voretigene neparvovec (VN) at a single center in Italy. Retrospective review of six consecutive pediatric patients with biallelic RPE65-related dystrophy treated bilaterally with VN. SD-OCT scans were analyzed to extract Early Treatment Diabetic Retinopathy Study (ETDRS) thickness maps of the whole retina and the outer nuclear layer (ONL). Changes in visual function were assessed by best-corrected visual acuity (BCVA) and retinal morphology at Days 30/45 and 180. BCVA significantly improved at Day 30/45 and 6 months (both P < 0.001). Central foveal retinal thickness and central foveal ONL thickness tended to increase (6.4 ± 19.2 µm; P = 0.080 and 3.42 ± 7.68 µm; P = 0.091, respectively). ONL thickness of the internal ETDRS-ring significantly increased at day 30/45 (4.7 ± 8.4 µm; P < 0.001) and day 180 (5.0 ± 5.7 µm; P = 0.009). Intra-operative foveal detachment was not associated with a higher function gain in terms of BCVA, but with a mild thinning of foveal ONL after treatment. The improvement of BCVA and thickening of the ONL layer suggest that improvement of visual acuity could be related to partial recovery of retinal morphology in the perifoveal ring.https://doi.org/10.1038/s41598-022-22180-6 |
| spellingShingle | Francesco Testa Paolo Melillo Valentina Di Iorio Claudio Iovino Francesco Farinaro Marianthi Karali Sandro Banfi Settimio Rossi Michele Della Corte Francesca Simonelli Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy Scientific Reports |
| title | Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy |
| title_full | Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy |
| title_fullStr | Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy |
| title_full_unstemmed | Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy |
| title_short | Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy |
| title_sort | visual function and retinal changes after voretigene neparvovec treatment in children with biallelic rpe65 related inherited retinal dystrophy |
| url | https://doi.org/10.1038/s41598-022-22180-6 |
| work_keys_str_mv | AT francescotesta visualfunctionandretinalchangesaftervoretigeneneparvovectreatmentinchildrenwithbiallelicrpe65relatedinheritedretinaldystrophy AT paolomelillo visualfunctionandretinalchangesaftervoretigeneneparvovectreatmentinchildrenwithbiallelicrpe65relatedinheritedretinaldystrophy AT valentinadiiorio visualfunctionandretinalchangesaftervoretigeneneparvovectreatmentinchildrenwithbiallelicrpe65relatedinheritedretinaldystrophy AT claudioiovino visualfunctionandretinalchangesaftervoretigeneneparvovectreatmentinchildrenwithbiallelicrpe65relatedinheritedretinaldystrophy AT francescofarinaro visualfunctionandretinalchangesaftervoretigeneneparvovectreatmentinchildrenwithbiallelicrpe65relatedinheritedretinaldystrophy AT marianthikarali visualfunctionandretinalchangesaftervoretigeneneparvovectreatmentinchildrenwithbiallelicrpe65relatedinheritedretinaldystrophy AT sandrobanfi visualfunctionandretinalchangesaftervoretigeneneparvovectreatmentinchildrenwithbiallelicrpe65relatedinheritedretinaldystrophy AT settimiorossi visualfunctionandretinalchangesaftervoretigeneneparvovectreatmentinchildrenwithbiallelicrpe65relatedinheritedretinaldystrophy AT micheledellacorte visualfunctionandretinalchangesaftervoretigeneneparvovectreatmentinchildrenwithbiallelicrpe65relatedinheritedretinaldystrophy AT francescasimonelli visualfunctionandretinalchangesaftervoretigeneneparvovectreatmentinchildrenwithbiallelicrpe65relatedinheritedretinaldystrophy |