Anales de la RANM

283 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 colaborativos “ The ESRETNET Study Group ”, “ The ERDC Study Group ”, “ The Associated Clinical Study Group”, y a los pacientes que participaron en este estudio. DECLARACIÓN DE TRANSPARENCIA Los autores/as de este artículo declaran no tener ningún tipo de conflicto de intereses respecto a lo expuesto en el presente trabajo. BIBLIOGRAFÍA 1. Wright AF, Chakarova CF, Abd El-Aziz MM, Bhattacharya SS. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet. 2010;11(4): 273-284. 2. Ayuso C, Millán JM. Retinitis pigmentosa and allied conditions today: a paradigm of transla- tional research. Genome Med. 2010; 2(5) :34. 3. Hartong DT, Berson EL, Dryja TP. Retinitis pig- mentosa. Lancet. 2006; 368(9549): 1795-1809. 4. Vaidya P. Retinitis pigmentosa: Disease en- cumbrance in the Eurozone. Int J Ophthalmol Clin Res [Internet]. 2015; 2(4). Disponible en: https://clinmedjournals.org/articles/ijocr/ijo- cr-2-030.php?jid=ijocr 5. Hanany M, Rivolta C, Sharon D. Worldwide ca- rrier frequency and genetic prevalence of auto- somal recessive inherited retinal diseases. Proc Natl Acad Sci U S A. 2020; 117(5): 2710-2716. 6. Cross N, van Steen C, Zegaoui Y, Satherley A, Angelillo L. Retinitis pigmentosa: Burden of di- sease and current unmet needs. Clin Ophthal- mol. 2022; 16: 1993-2010. 7. Verbakel SK, van Huet RAC, Boon CJF et al. Non-syndromic retinitis pigmentosa. Prog Re- tin Eye Res. 2018; 66: 157-186. 8. Kumaran N, Moore AT, Weleber RG, Michaeli- des M. Leber congenital amaurosis/early-onset severe retinal dystrophy: Clinical features, mo- lecular genetics and therapeutic interventions. Br J Ophthalmol. 2017; 101(9): 1147-1154. 9. Gill JS, Georgiou M, Kalitzeos A, Moore AT, Michaelides M. Progressive cone and cone-rod dystrophies: Clinical features, molecular gene- tics and prospects for therapy. Br J Ophthalmol. 2019; 103(5): 711-720. doi: 10.1136/bjophthal- mol-2018-313278. 10. Millán JM, Aller E, Jaijo T, Blanco-Kelly F, Gime- nez-Pardo A, Ayuso C. An update on the genetics of usher syndrome. J Ophthalmol. 2011; 2011: 417217. 11. Perea-Romero I, Blanco-Kelly F, Sánchez-Navarro I et al. NGS and phenotypic ontology-based ap- proaches increase the diagnostic yield in syndro- mic retinal diseases. Hum Genet. 2021; 140(12): 1665-1678. 12. Farrar GJ, Carrigan M, Dockery A et al. Toward an elucidation of the molecular genetics of in- herited retinal degenerations. Hum Mol Genet. 2017; 26(R1): R2-11. 13. Huang XF, Huang F, Wu KC et al. Genotype– phenotype correlation and mutation spectrum in a large cohort of patients with inherited re- tinal dystrophy revealed by next-generation se- quencing. Genet Med. 2015; 17(4): 271-278. 14. Sharon D, Ben‐Yosef T, Goldenberg‐Cohen N et al. A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israe- li inherited retinal disease consortium (IIRDC). Hum Mutat. 2020; 41(1): 140-149. 15. Goetz KE, Reeves MJ, Gagadam S et al. Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network. Am J Med Genet. 2020; 184(3): 828-837. 16. Pontikos N, Arno G, Jurkute N et al. Genetic ba- sis of inherited retinal disease in a molecularly characterized cohort of more than 3000 fami- lies from the United Kingdom. Ophthalmology. 2020; 127(10): 1384-1394. 17. Colombo L, Maltese PE, Castori M et al. Mo- lecular epidemiology in 591 Italian probands with nonsyndromic retinitis pigmentosa and usher syndrome. Invest Ophthalmol Vis Sci. 2021;62(2):13. 18. Perea-Romero I, Gordo G, Iancu IF et al. Gene- tic landscape of 6089 inherited retinal dystro- phies affected cases in Spain and their therapeu- tic and extended epidemiological implications. Sci Rep. 2021; 11(1):1526. 19. Blanco-Kelly F, Jaijo T, Aller E et al. Clinical as- pects of Usher syndrome and the USH2A gene in a cohort of 433 patients. JAMA Ophthalmol. 2015; 133(2): 157-164. 20. Sánchez-Navarro I, R J da Silva L, Blanco-Kelly F et al. Combining targeted panel-based rese- quencing and copy-number variation analysis for the diagnosis of inherited syndromic reti- nopathies and associated ciliopathies. Sci Rep. 2018; 8(1): 5285. 21. Riveiro-Alvarez R, López-Martínez MA, Zer- nant J et al. Outcome of ABCA4 disease-asso- ciated alleles in autosomal recessive retinal dys- trophies: Retrospective analysis in 420 Spanish families. Ophthalmology. 2013; 120(11): 2332- 2337. 22. Martín-Mérida I, Avila-Fernández A, Del Pozo- Valero M et al. Genomic landscape of sporadic retinitis pigmentosa: Findings from 877 Spanish cases. Ophthalmology. 2019; 126(8): 1181-1188. 23. Köhler S, Schulz MH, Krawitz P et al. Clinical diagnostics in human genetics with semantic si- milarity searches in ontologies. Am J Hum Ge- net. 2009; 85(4): 457-464. 24. Ayuso C, García-Sandoval B, Najera C, Valverde D, Carballo M, Antiñolo G. Retinitis pigmento- sa in Spain. The Spanish Multicentric and Mul- tidisciplinary Group for Research into Retinitis Pigmentosa. Clin Genet. 1995; 48(3): 120-122. 25. Corton M, Nishiguchi KM, Avila-Fernández A et al. Exome sequencing of index patients with retinal dystrophies as a tool for molecular diag- nosis. PLoS One. 2013; 8(6): e65574. 26. Iancu IF, Perea-Romero I, Núñez-Moreno G et al. Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophies. IJMS. 2022; 23(15): 8431.