Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort-Reference-Cited by-同舟云学术

Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort

Published:2021-03-01 Issue:3 Volume:139 Page:278
ISSN:2168-6165
Container-title:JAMA Ophthalmology
language:en
Short-container-title:JAMA Ophthalmol

Author:

Smirnov Vasily M.¹²³,Nassisi Marco¹,Solis Hernandez Cyntia¹,Méjécase Cécile¹⁴,El Shamieh Said¹⁵,Condroyer Christel¹,Antonio Aline¹,Meunier Isabelle⁶⁷,Andrieu Camille⁸,Defoort-Dhellemmes Sabine³,Mohand-Said Saddek⁸,Sahel José-Alain¹⁸⁹¹⁰¹¹,Audo Isabelle¹⁴⁸,Zeitz Christina¹

Affiliation:

1. Sorbonne Université, INSERM, Centre national de la recherche scientifique, Institut de la Vision, Paris, France

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

3. Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France

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

5. Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon

6. Institute for Neurosciences Montpellier, INSERM U1051, University of Monpellier, Montpellier, France

7. National Center for Rare Genetic Retinal Dystrophies, Hôpital Guy de Chauliac, Montpellier, France

8. Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 1423, Paris, France

9. Fondation Ophtalmologique Adolphe de Rothschild, Paris, France

10. Académie des Sciences, Institut de France, Paris, France

11. Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

Publisher

American Medical Association (AMA)

Subject

Ophthalmology

Link

https://jamanetwork.com/journals/jamaophthalmology/articlepdf/2775583/jamaophthalmology_smirnov_2021_oi_200107_1635353453.26514.pdf

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3. Retinal diseases caused by mutations in genes not specifically associated with the clinical diagnosis.;Wang;PLoS One,2016

4. Clinical and genetic analysis of a European cohort with pericentral retinitis pigmentosa.;Karali;Int J Mol Sci,2019

5. BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.;Estrada-Cuzcano;Arch Ophthalmol,2012

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