Anales de la RANM

284 A N A L E S R A N M R E V I S T A F U N D A D A E N 1 8 7 9 DISTROFIAS HEREDITARIAS DE LA RETINA EN ESPAÑA Perea-Romero I, et al. An RANM. 2022;139(03): 274 - 284 27. Romero R, de la Fuente L, Del Pozo-Valero M et al. An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to in- crease the diagnostic ratio of genetic diseases. NPJ Genom Med. 2022; 7(1): 7. 28. Richards S, Aziz N, Bale S et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Mo- lecular Pathology. Genet Med. 2015; 17(5): 405-424. 29. Riveiro-Alvarez R, Aguirre-Lamban J, López- Martínez MA et al. Frequency of ABCA4 mu- tations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. Brit J Ophthalmol. 2009; 93(10): 1359- 1364. 30. Reurink J, de Vrieze E, Li CHZ et al. Scrutini- zing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant. NPJ Genom Med. 2022; 7(1): 37. 31. Maeda A, Yoshida A, Kawai K et al. Develop- ment of a molecular diagnostic test for retinitis pigmentosa in the Japanese population. JPN J Ophthalmol. 2018; 62(4): 451-457. 32. Motta FL, Martin RP, Filippelli-Silva R, Salles MV, Sallum JMF. Relative frequency of inheri- ted retinal dystrophies in Brazil. Sci Rep. 2018; 8(1): 15939. 33. Bravo-Gil N, González-del Pozo M, Martín- Sánchez M et al. Unravelling the genetic basis of simplex retinitis pigmentosa cases. Sci Rep. 2017; 7(1): 41937. 34. Tiwari A, Bahr A, Bähr L et al. Next genera- tion sequencing based identification of di- sease-associated mutations in Swiss patients with retinal dystrophies. Sci Rep. 2016; 6(1): 28755. 35. Weisschuh N, Obermaier CD, Battke F et al. Genetic architecture of inherited retinal de- generation in Germany: a large cohort study from a single diagnostic center over a 9‐year period. Hum Mutat. 2020; 41(9): 1514-1527. 36. Whelan L, Dockery A, Wynne N et al. Findings from a genotyping study of over 1000 people with inherited retinal disorders in Ireland. Ge- nes. 2020; 11(1): 105. 37. Chheda H, Palta P, Pirinen M et al. Whole-ge- nome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom. Eur J Hum Genet. 2017; 25(4): 477-484. 38. Valverde D, Riveiro-Alvarez R, Bernal S et al. Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: Evidence of a prevalent mutated allele. Mol Vis. 2006; 12: 902-908. 39. Del Pozo-Valero M, Riveiro-Alvarez R, Blanco- Kelly F et al. Genotype–Phenotype correlations in a Spanish cohort of 506 families with biallelic abca4 pathogenic variants. Am J Ophthalmol. 2020; 219 :195-204. 40. López-Rodríguez R, Lantero E, Blanco-Kelly F et al. RPE65-related retinal dystrophy: Mutatio- nal and phenotypic spectrum in 45 affected pa- tients. Exp Eye Res. 2021; 212: 108761. Si desea citar nuestro artículo: Perea-Romero I, Fernández-Caballero L, Iancu IF, Rodilla C, Martín-Mérida I, Ávila-Fernández A, Almoguera B, Riveiro-Ál- varez R, Trujillo-Tiebas MJ, Lorda-Sánchez I, Tahsin-Swafiri S, López-Grondona F, Sánchez AI, Blanco-Kelly F, del Pozo-Valero M, Mínguez P, Millán JM, Martín-Gutiérrez P, Jiménez-Rolando B, Carreño E, García-Sandoval B, Cortón M, Ayuso C. Distrofias Hereditarias de Retina en España: tres décadas de estudio epide- miológico, clínico y genético. An RANM. 2022;139(03): 274– 284. DOI: 10.32440/ar.2022.139.03. rev08

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