Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
- Perea-Romero I.
- Gordo G.
- Iancu I. F.
- Del Pozo-Valero M.
- Almoguera B.
- Blanco-Kelly F.
- Carreno E.
- Jimenez-Rolando B.
- Lopez-Rodriguez R.
- Lorda-Sanchez I.
- Martin-Merida I.
- Perez de Ayala L.
- Riveiro-Alvarez R.
- Rodriguez-Pinilla E.
- Tahsin-Swafiri S.
- Trujillo-Tiebas M. J.
- Bustamante-Aragones A.
- Cardero-Merlo R.
- Fernandez-Sanchez R.
- Gallego-Merlo J.
- Garcia-Vara I.
- Gimenez-Pardo A.
- Horcajada-Burgos L.
- Infantes-Barbero F.
- Lantero E.
- Lopez-Martinez M. A.
- Martinez-Ramas A.
- Ondo L.
- Rodriguez de Alba M.
- Sanchez-Jimeno C.
- Velez-Monsalve C.
- Villaverde C.
- Zurita O.
- Aguilera-Garcia D.
- Aguirre-Lamban J.
- Arteche A.
- Cantalapiedra D.
- Fernandez-San Jose P.
- Galbis-Martinez L.
- Garcia-Hoyos M.
- Lombardia C.
- Lopez-Molina M. I.
- Perez-Carro R.
- Da Silva L. R. J.
- Ramos C.
- Sanchez-Alcudia R.
- Sanchez-Navarro I.
- Tatu S. D.
- Vallespin E.
- Aller E.
- Bernal S.
- Gamundi M. J.
- Garcia-Garcia G.
- Hernan I.
- Jaijo T.
- Antinolo G.
- Baiget M.
- Carballo M.
- Millan J. M.
- Valverde D.
- Allikmets R.
- Banfi S.
- Cremers F. P. M.
- Collin R. W. J.
- De Baere E.
- Hakonarson H.
- Kohl S.
- Rivolta C.
- Sharon D.
- Alonso-Cerezo M. C.
- Ballesta-Martinez M. J.
- Beltran S.
- Benito Lopez C.
- Catala-Mora J.
- Catalli C.
- Cotarelo-Perez C.
- Fernandez-Burriel M.
- Fontalba-Romero A.
- Galan-Gomez E.
- Garcia-Barcina M.
- Garcia-Cruz L. M.
- Gener B.
- Gil-Fournier B.
- Govea N.
- Guillen-Navarro E.
- Hernando Acero I.
- Irigoyen C.
- Izquierdo-Alvarez S.
- Llano-Rivas I.
- Lopez-Ariztegui M. A.
- Lopez-Gonzalez V.
- Lopez-Grondona F.
- Martorell L.
- Mendez-Perez P.
- Moreno-Igoa M.
- Oancea-Ionescu R.
- Palau-Martinez F.
- Perez de Nanclares G.
- Ramos-Fuentes F. J.
- Rodriguez-Lopez R.
- Rodriguez-Pedreira M.
- Rodriguez-Pena L.
- Rodriguez-Sanchez B.
- Rosell J.
- Rosello N.
- Saez-Villaverde R.
- Santana A.
- Valenzuela-Palafoll I.
- Villota-Deleu E.
- Garcia-Sandoval B.
- Minguez P.
- Avila-Fernandez A.
- Corton M.
- Ayuso C.
DOIAbstract
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 (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to...
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