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Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

In contrast to USH2A, variants in ADGRV1 are a minor cause of Usher syndrome type 2, and the associated phenotype is less known. The purpose of the study was to characterize the retinal phenotype of 18 ADGRV1 patients (9 male, 9 female; median age 52 years) and compare it with that of 204 USH2A pati...

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Autores principales: Fakin, Ana, Bonnet, Crystel, Kurtenbach, Anne, Mohand-Said, Saddek, Zobor, Ditta, Stingl, Katarina, Testa, Francesco, Simonelli, Francesca, Sahel, José-Alain, Audo, Isabelle, Zrenner, Eberhart, Hawlina, Marko, Petit, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8509029/
https://www.ncbi.nlm.nih.gov/pubmed/34638692
http://dx.doi.org/10.3390/ijms221910352
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author Fakin, Ana
Bonnet, Crystel
Kurtenbach, Anne
Mohand-Said, Saddek
Zobor, Ditta
Stingl, Katarina
Testa, Francesco
Simonelli, Francesca
Sahel, José-Alain
Audo, Isabelle
Zrenner, Eberhart
Hawlina, Marko
Petit, Christine
author_facet Fakin, Ana
Bonnet, Crystel
Kurtenbach, Anne
Mohand-Said, Saddek
Zobor, Ditta
Stingl, Katarina
Testa, Francesco
Simonelli, Francesca
Sahel, José-Alain
Audo, Isabelle
Zrenner, Eberhart
Hawlina, Marko
Petit, Christine
author_sort Fakin, Ana
collection PubMed
description In contrast to USH2A, variants in ADGRV1 are a minor cause of Usher syndrome type 2, and the associated phenotype is less known. The purpose of the study was to characterize the retinal phenotype of 18 ADGRV1 patients (9 male, 9 female; median age 52 years) and compare it with that of 204 USH2A patients (111 male, 93 female; median age 43 years) in terms of nyctalopia onset, best corrected visual acuity (BCVA), fundus autofluorescence (FAF), and optical coherence tomography (OCT) features. There was no statistical difference in the median age at onset (30 and 18 years; Mann–Whitney U test, p = 0.13); the mean age when 50% of the patients reached legal blindness (≥1.0 log MAR) based on visual acuity (64 years for both groups; log-rank, p = 0.3); the risk of developing advanced retinal degeneration (patch or atrophy) with age (multiple logistic regression, p = 0.8); or the frequency of cystoid macular edema (31% vs. 26%, Fisher’s exact test, p = 0.4). ADGRV1 and USH2A retinopathy were indistinguishable in all major functional and structural characteristics, suggesting that the loss of function of the corresponding proteins produces similar effects in the retina. The results are important for counseling ADGRV1 patients, who represent the minor patient subgroup.
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spelling pubmed-85090292021-10-13 Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush Fakin, Ana Bonnet, Crystel Kurtenbach, Anne Mohand-Said, Saddek Zobor, Ditta Stingl, Katarina Testa, Francesco Simonelli, Francesca Sahel, José-Alain Audo, Isabelle Zrenner, Eberhart Hawlina, Marko Petit, Christine Int J Mol Sci Article In contrast to USH2A, variants in ADGRV1 are a minor cause of Usher syndrome type 2, and the associated phenotype is less known. The purpose of the study was to characterize the retinal phenotype of 18 ADGRV1 patients (9 male, 9 female; median age 52 years) and compare it with that of 204 USH2A patients (111 male, 93 female; median age 43 years) in terms of nyctalopia onset, best corrected visual acuity (BCVA), fundus autofluorescence (FAF), and optical coherence tomography (OCT) features. There was no statistical difference in the median age at onset (30 and 18 years; Mann–Whitney U test, p = 0.13); the mean age when 50% of the patients reached legal blindness (≥1.0 log MAR) based on visual acuity (64 years for both groups; log-rank, p = 0.3); the risk of developing advanced retinal degeneration (patch or atrophy) with age (multiple logistic regression, p = 0.8); or the frequency of cystoid macular edema (31% vs. 26%, Fisher’s exact test, p = 0.4). ADGRV1 and USH2A retinopathy were indistinguishable in all major functional and structural characteristics, suggesting that the loss of function of the corresponding proteins produces similar effects in the retina. The results are important for counseling ADGRV1 patients, who represent the minor patient subgroup. MDPI 2021-09-26 /pmc/articles/PMC8509029/ /pubmed/34638692 http://dx.doi.org/10.3390/ijms221910352 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Fakin, Ana
Bonnet, Crystel
Kurtenbach, Anne
Mohand-Said, Saddek
Zobor, Ditta
Stingl, Katarina
Testa, Francesco
Simonelli, Francesca
Sahel, José-Alain
Audo, Isabelle
Zrenner, Eberhart
Hawlina, Marko
Petit, Christine
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
title Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
title_full Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
title_fullStr Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
title_full_unstemmed Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
title_short Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
title_sort characteristics of retinitis pigmentosa associated with adgrv1 and comparison with ush2a in patients from a multicentric usher syndrome study treatrush
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8509029/
https://www.ncbi.nlm.nih.gov/pubmed/34638692
http://dx.doi.org/10.3390/ijms221910352
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