RT Journal Article
T1 Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
A1 Perea-Romero, Irene
A1 Gordo, Gema
A1 Iancu, Ionut F
A1 Del-Pozo-Valero, Marta
A1 Almoguera, Berta
A1 Blanco-Kelly, Fiona
A1 Carreño, Ester
A1 Jimenez-Rolando, Belen
A1 Lopez-Rodriguez, Rosario
A1 Lorda-Sanchez, Isabel
A1 Martin-Merida, Inmaculada
A1 Pérez de Ayala, Lucia
A1 Riveiro-Alvarez, Rosa
A1 Rodriguez-Pinilla, Elvira
A1 Tahsin-Swafiri, Saoud
A1 Trujillo-Tiebas, Maria J
A1 Garcia-Sandoval, Blanca
A1 Minguez, Pablo
A1 Avila-Fernandez, Almudena
A1 Corton, Marta
A1 Ayuso, Carmen
K1 ATP-Binding Cassette Transporters
K1 Extracellular Matrix Proteins
K1 Eye Proteins
K1 Genetic Testing
K1 Prevalence
K1 Spain
AB 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 the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.
PB Nature Publishing Group
YR 2021
FD 2021-01-15
LK https://hdl.handle.net/10668/27631
UL https://hdl.handle.net/10668/27631
LA en
NO Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, et al. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Sci Rep. 2021 Jan 15;11(1):1526.
DS RISalud
RD Sep 28, 2025