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Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

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Nassisi, Marco | de Bartolo, Giuseppe | Mohand-Said, Saddek | Condroyer, Christel | Antonio, Aline | Lancelot, Marie-Elise | Bujakowska, Kinga | Smirnov, Vasily | Pugliese, Thomas | Neidhardt, John | Sahel, José-Alain | Zeitz, Christina | Audo, Isabelle

Edité par CCSD ; MDPI -

International audience. Variants in the X-linked retinitis pigmentosa GTPase regulator gene (RPGR) and, specifically, in its retinal opening reading frame-15 isoform (RPGR ORF15) may cause rod-cone (RCD), cone, and cone-rod dystrophies (CDs and CRDs). While RPGR-related RCDs have been frequently evaluated, the characteristics and progression of RPGR-related CD/CRDs are largely unknown. Therefore, the goal of our work was to perform genotype-phenotype correlations specifically in RPGR ORF15related CD/CRDs. This retrospective longitudinal study included 34 index patients and two affected relatives with a molecular diagnosis of RPGR-related CD/CRDs. Patients were recruited at the

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