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

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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

Edité par CCSD ; Association for Research in Vision and Ophthalmology -

International audience. PURPOSE. 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.

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