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Article

Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.

Scientific reports - 3 Feb 2017

Bravo-Gil Nereida, González-Del Pozo María, Martín-Sánchez Marta, Méndez-Vidal Cristina, Rodríguez-de la Rúa Enrique, Borrego Salud, Antiñolo Guillermo

Abstract excerpt

Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD) characterized ultimately by photoreceptors degeneration. Exhibiting great clinical and genetic heterogeneity, RP can be inherited as an autosomal dominant (ad), autosomal recessive (ar) and X-linked (xl) disorder. Although the relative prevalence of each form varies somewhat between populations, a major proportion (41% in...

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Identifiers

PMID: 28157192
DOI: 10.1038/srep41937
PMCID: PMC5291209

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