Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants
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DOI: 10.3390/biomedicines13071531
Abstract: Background/Objectives: Pathogenic variants in the PRPH2 gene are implicated in a wide spectrum of Inherited Retinal Dystrophies (IRDs), which show significant phenotypic heterogeneity. This study combines genomic, clinical, and instrumental data, including BCVA, OCT, ERG,… read more here.
Keywords: prph2 variants; identification three; retinal dystrophies; novel prph2 ... See more keywords