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Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa

Archive ouverte | Vaché, Christel | CCSD

International audience. X-linked retinitis pigmentosa (XLRP) is characterized by progressive vision loss leading to legal blindness in males and a broad severity spectrum in carrier females. Pathogenic alterations o...

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

Archive ouverte | Vaché, Christel | CCSD

International audience. Choroideremia is a monogenic X-linked recessive chorioretinal disease linked to pathogenic variants in the CHM gene. These variants are commonly base-pair changes, frameshifts, or large delet...

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

Archive ouverte | Bocquet, Béatrice | CCSD

International audience. PURPOSE:Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are rare diseases defined by specific clinical and molecular features. The relative prevalence of these co...

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