| Title: |
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush |
| Authors: |
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 |
| Contributors: |
University Medical Centre Ljubljana (UMCL); Institut de l'Audition Paris (IDA); Institut Pasteur Paris (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité); Université Paris Cité (UPCité); Eberhard Karls Universität Tübingen = University of Tübingen; Institut de la Vision; Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS); Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO); Sorbonne Université (SU); Università degli studi della Campania "Luigi Vanvitelli" = University of the Study of Campania Luigi Vanvitelli; Hôpital de la Fondation Ophtalmologique Adolphe de Rothschild AP-HP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP); University of Pittsburgh School of Medicine; Pennsylvania Commonwealth System of Higher Education (PCSHE); Collège de France (CdF (institution)); This work was supported by the European Union Seventh Framework Programme under the grant agreement HEALTH-F2-2010-242013 (TREATRUSH), the Slovenian Research Agency (grant ARRS J3-1750), and the Tistou and Charlotte Kerstan Foundation, Tübingen.; European Project: 242013,FP7-HEALTH-2009-single-stage,FP7-HEALTH-2009-single-stage,TREATRUSH(2010) |
| Source: |
ISSN: 1661-6596. |
| Publisher Information: |
CCSD; MDPI |
| Publication Year: |
2021 |
| Subject Terms: |
adhesion G protein-coupled receptor V1; hyperautofluorescent ring; fundus autofluorescence; retinitis pigmentosa; MASS1; GPR98; VLGR1; ADGRV1; USH2A; Usher syndrome (USH); [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology |
| Description: |
International audience ; 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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/34638692; info:eu-repo/grantAgreement//242013/EU/Fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment (TreatRetUsher)/TREATRUSH; PUBMED: 34638692; PUBMEDCENTRAL: PMC8509029 |
| DOI: |
10.3390/ijms221910352 |
| Availability: |
https://hal.sorbonne-universite.fr/hal-03417248; https://hal.sorbonne-universite.fr/hal-03417248v1/document; https://hal.sorbonne-universite.fr/hal-03417248v1/file/ijms-22-10352.pdf; https://doi.org/10.3390/ijms221910352 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ ; info:eu-repo/semantics/OpenAccess |
| Accession Number: |
edsbas.15A382F |
| Database: |
BASE |