Article
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.
Investigative ophthalmology & visual science - 1 Apr 2022
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
Abstract excerpt
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. Methods: Patients were clinically investigated at the National Reference Center for rare ocular diseases at the...
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