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Article

PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.

Genes - 9 Jul 2020

Coco-Martin Rosa M, Sanchez-Tocino Hortensia T, Desco Carmen, Usategui-Martín Ricardo, Tellería Juan J

Abstract excerpt

Over 175 pathogenic mutations in the Peripherin-2 (PRPH2) gene are linked to various retinal diseases. We report the phenotype and genotype of eight families (24 patients) with retinal diseases associated with seven distinct PRPH2 gene mutations. We identified a new mutation, c.824_828+3delinsCATTTGGGCTCCTCATTTGG, in a patient with adult-onset vitelliform macular dystrophy (AVMD). One family with the p.Arg46Ter...

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Identifiers

PMID: 32660024
DOI: 10.3390/genes11070773
PMCID: PMC7397286

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