Retinal Phenotype of Patients with <i>CLRN1</i>-Associated Usher 3A Syndrome in French Light4Deaf Cohort-Reference-Cited by-同舟云学术

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

Published:2022-04-28 Issue:4 Volume:63 Page:25
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Smirnov Vasily M.¹²,Nassisi Marco¹,Mohand-Saïd Saddek¹³,Bonnet Crystel⁴⁵⁶,Aubois Anne³,Devisme Céline³,Dib Thilissa³,Zeitz Christina¹,Loundon Natalie⁷⁸,Marlin Sandrine⁸,Petit Christine⁴⁵⁶⁹,Bodaghi Bahram¹⁰,Sahel José-Alain¹³¹¹¹²¹³,Audo Isabelle¹³¹⁴

Affiliation:

1. Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France

2. Université de Lille, Faculté de Médecine, Lille, France

3. CHNO des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and DHU Sight Restore, INSERM-DGOS CIC1423, Paris, France

4. Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris, France

5. Unité Mixte de Recherche en Santé 1120, INSERM, Paris, France

6. Institut de l'Audition, Paris, France

7. Otorhinolaryngologie Pédiatrique, APHP Hôpital Necker, Paris, France

8. Centre de référence des Surdités Génétiques, Service de Génétique, APHP Hôpital Necker, Paris, France

9. Collège de France, Paris, France

10. Hôpital Pitié-Salpêtrière, Paris, France

11. Fondation Ophtalmologique Adolphe de Rothschild, Paris, France

12. Department of Ophthalmology, University of Pittsburgh Medical School, Pittsburgh, Pennsylvania, United States

13. Académie des Sciences-Institut de France, Paris, France

14. Institute of Ophthalmology, University College of London, London, United Kingdom

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Reference49 articles.

1. Usher syndrome: definition and estimate of prevalence from two high-risk populations;Boughman;J Chronic Dis,1983

2. Retinitis pigmentosa;Hartong;Lancet,2006

3. The usher syndromes;Keats;Am J Med Genet,1999

4. Frequency of Usher syndrome in two pediatric populations: implications for genetic screening of deaf and hard of hearing children;Kimberling;Genet Med,2010

5. Usher syndrome and non-syndromic deafness: functions of different whirlin isoforms in the cochlea, vestibular organs, and retina;Mathur;Hear Res,2019