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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...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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. |
format | Online Article Text |
id | pubmed-8509029 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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