1 research outputs found
Retinal Phenotype of Patients with <i>CLRN1</i>-Associated Usher 3A Syndrome in French Light4Deaf Cohort
International audiencePURPOSE. Biallelic variants in CLRN1 are responsible for Usher syndrome 3A and nonsyndromic 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