Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

doi:10.1038/s41598-021-81093-y

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Article

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

Scientific reports - 15 Jan 2021

Perea-Romero Irene, Gordo Gema, Iancu Ionut F, Del Pozo-Valero Marta, Almoguera Berta, Blanco-Kelly Fiona, Carreño Ester, Jimenez-Rolando Belen, Lopez-Rodriguez Rosario, Lorda-Sanchez Isabel, Martin-Merida Inmaculada, Pérez de Ayala Lucia, Riveiro-Alvarez Rosa, Rodriguez-Pinilla Elvira, Tahsin-Swafiri Saoud, Trujillo-Tiebas Maria J, Garcia-Sandoval Blanca, Minguez Pablo, Avila-Fernandez Almudena, Corton Marta, Ayuso Carmen

Abstract excerpt

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals...

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PMID: 33452396
DOI: 10.1038/s41598-021-81093-y
PMCID: PMC7810997

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