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

PURPOSE: Biallelic variants in CLRN1 are responsible for Usher syndrome 3A and non-syndromic rod–cone dystrophy (RCD). Retinal findings in Usher syndrome 3A have not been well defined. We report the detailed phenotypic description of RCD associated with CLRN1 variants in a prospective cohort. METHOD...

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Detalles Bibliográficos
Autores principales: Smirnov, Vasily M., Nassisi, Marco, Mohand-Saïd, Saddek, Bonnet, Crystel, Aubois, Anne, Devisme, Céline, Dib, Thilissa, Zeitz, Christina, Loundon, Natalie, Marlin, Sandrine, Petit, Christine, Bodaghi, Bahram, Sahel, José-Alain, Audo, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9055553/
https://www.ncbi.nlm.nih.gov/pubmed/35481838
http://dx.doi.org/10.1167/iovs.63.4.25

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9055553/
https://www.ncbi.nlm.nih.gov/pubmed/35481838
http://dx.doi.org/10.1167/iovs.63.4.25

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