References
- Cremers FPM, Boon CJF, Bujakowska K, Zeitz C. Special issue introduction: inherited retinal disease: novel candidate genes, genotype-phenotype correlations, and inheritance models. Genes (Basel). 2018 Apr 16;9(4):E215. doi:https://doi.org/10.3390/genes9040215. PMID:29659558 PMCID:PMC5924557
- Ayuso C, Millan JM. Retinitis pigmentosa and allied conditions today: a paradigm of translational research. Genome Med. 2010 May 27;2(5):34. doi:https://doi.org/10.1186/gm155. PMID:20519033 PMCID:PMC2887078
- Broadgate S, Yu J, Downes SM, Halford S. Unravelling the genetics of inherited retinal dystrophies: past, present and future. Prog Retin Eye Res. 2017 Jul;59:53–96. doi:https://doi.org/10.1016/j.preteyeres.2017.03.003. PMID: 28363849
- Berger W, Kloeckener-Gruissem B, Neidhardt J. The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res. 2010 Sep;29(5):335–75. doi:https://doi.org/10.1016/j.preteyeres.2010.03.004. PMID:20362068.
- Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795–809. doi:https://doi.org/10.1016/S0140-6736(06)69740-7. PMID:17113430
- Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. 2015. 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 Molecular Pathology. Genet Med. 17(5):405–24. doi:https://doi.org/10.1038/gim.2015.30
- Lázaro-Guevara JM, Flores-Robles BJ, Garrido K, Pinillos-Aransay V, Elena-Ibáñez A, Merino-Meléndez L, López-Martínez JA, Victoriano-Lacalle R. Gene’s hubs in retinal diseases: a retinal disease network. Heliyon. 2018 Nov 2;4(10):e00867. doi:https://doi.org/10.1016/j.heliyon.2018.e00867. PMID:30417144 PMCID:PMC6218668
- Whelan L, Dockery A, Wynne N, Zhu J, Stephenson K, Silvestri G, Turner J, O’Byrne JJ, Carrigan M, Humphries P, et al. Findings from a genotyping study of over 1000 people with inherited retinal disorders in Ireland. Genes (Basel). 2020 Jan 16;11(1):E105. doi:https://doi.org/10.3390/genes11010105. PMID:31963381 PMCID:PMC7016747
- Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, et al. A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). Hum Mutat. 2020 Jan;41(1):140–49. doi:https://doi.org/10.1002/humu.23903. PMID:31456290.
- Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, et al. Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease. Ophthalmology. 2017 Sep;124(9):1314–31. doi:https://doi.org/10.1016/j.ophtha.2017.04.008. PMID:28559085 PMCID:PMC5565704.
- Khan AO. Phenotype-guided genetic testing of pediatric inherited retinal disease in the United Arab Emirates. Retina. 2019 Nov 8. doi:https://doi.org/10.1097/IAE.0000000000002675. PMID:31725702
- Bravo-Gil N, González-Del Pozo M, Martín-Sánchez M, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G. Unravelling the genetic basis of simplex retinitis pigmentosa cases. Sci Rep. 2017 Feb 3;7:41937. doi:https://doi.org/10.1038/srep41937. PMID:28157192 PMCID:PMC5291209.
- Ezquerra-Inchausti M, Anasagasti A, Barandika O, Garay-Aramburu G, Galdós M, López de Munain A, Irigoyen C, Ruiz-Ederra J. A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with inherited retinal dystrophies. Sci Rep. 2018 Oct 18;8(1):15457. doi:https://doi.org/10.1038/s41598-018-33810-3. PMID: 30337596 PMCID:PMC6194132
- Ferrari S, Di Iorio E, Barbaro V, Ponzin D, Sorrentino FS, Parmeggiani F. Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics. 2011 Jun;12(4):238–49. doi:https://doi.org/10.2174/138920211795860107. PMID: 22131869 PMCID:PMC3131731.
- Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, et al. Next-generation genetic testing for retinitis pigmentosa. Hum Mutat. 2012 Jun;33(6):963–72. doi:https://doi.org/10.1002/humu.22045. PMID:22334370 PMCID:PMC3490376.
- Fernandez-San Jose P, Corton M, Blanco-Kelly F, Avila-Fernandez A, Lopez-Martinez MA, Sanchez-Navarro I, Sanchez-Alcudia R, Perez-Carro R, Zurita O, Sanchez-Bolivar N, et al. Targeted next-generation sequencing improves the diagnosis of autosomal dominant retinitis pigmentosa in Spanish patients. Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2173–82. doi:https://doi.org/10.1167/iovs.14-16178. PMID:25698705.
- Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, et al. Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PLoS One. 2018 Dec 13;13; 12: e0207958. doi: https://doi.org/10.1371/journal.pone.0207958. PMID:30543658 PMCID:PMC6292620
- Kim MS, Joo K, Seong MW, Kim MJ, Park KH, Park SS, Woo SJ. Genetic mutation profiles in Korean patients with inherited retinal diseases. J Korean Med Sci. 2019 Jun 2;34(21):e161. doi:https://doi.org/10.3346/jkms.2019.34.e161. PMID:31144483 PMCID:PMC6543061
- Yoon CK, Kim NK, Joung JG, Shin JY, Park JH, Eum HH, Lee HO, Park WY, Yu HG. The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa. BMC Genomics. 2015 Jul 9;16:515. doi:https://doi.org/10.1186/s12864-015-1723-x. PMID:26155838 PMCID:PMC4496857.
- Rodríguez-Muñoz A, Aller E, Jaijo T, González-García E, Cabrera-Peset A, Gallego-Pinazo R, Udaondo P, Salom D, García-García G, Millán JM. Expanding the clinical and molecular heterogeneity of nonsyndromic inherited retinal dystrophies. J Mol Diagn. Feb 7 2020:S1525-1578(20) 30008–8. doi:https://doi.org/10.1016/j.jmoldx.2020.01.003. PMID:32036094.
- Sun Y, Li W, Li JK, Wang ZS, Bai JY, Xu L, Xing B, Yang W, Wang ZW, Wang LS, et al. Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa. Mol Genet Genomic Med. Feb 26 2020:e1184. doi:https://doi.org/10.1002/mgg3.1184. PMID:32100970.
- Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A, Trujillo-Tiebas MJ, et al. Genomic landscape of sporadic retinitis pigmentosa: findings from 877 Spanish cases. Ophthalmology. 2019 Aug;126(8):1181–88. doi:https://doi.org/10.1016/j.ophtha.2019.03.018. PMID:30902645.
- Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet. 2000 Aug;25(4):462–66. doi:https://doi.org/10.1038/78182. PMID:10932196.
- Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 2002 Jun;70(6):1545–54. doi:https://doi.org/10.1086/340848. PMID:11992260 PMCID:PMC379141.
- Nash BM, Dale C, Wright JR, Bennetts B, Jamieson RV. Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. Transl Pediatr. 2015 Apr 4; 2: 139–63. doi: https://doi.org/10.3978/j.2224-4336.2015.04.03. PMID:26835369 PMCID:PMC4729094
- Chiang JPW, Lamey TM, Wang NK, Duan J, Zhou W, McLaren TL, Thompson JA, Ruddle J, De Roach JN. Development of high -throughput clinical testing of RPGR ORF15 using large inherited retinal dystrophy cohort. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4434–40. doi:https://doi.org/10.1167/iovs.18-24555. PMID:30193314
- Cicinelli MV, Battista M, Starace V, Battaglia Parodi M, Bandello F. Monitoring and management of the patient with stargardt disease. Clin Optom (Auckl). 2019 Nov 28;11:151–65. doi:https://doi.org/10.2147/OPTO.S226595. PMID:31819694 PMCID:PMC6886536.
- Khan M, Cornelis SS, Khan MI, Elmelik D, Manders E, Bakker S, Derks R, Neveling K, van de Vorst M, Gilissen C, et al. Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease. Hum Mutat. 2019 Oct;40(10):1749–59. doi:https://doi.org/10.1002/humu.23787. PMID:31212395.
- Passerini I, Sodi A, Giambene B, Mariottini A, Menchini U, Torricelli F. Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. Eye (Lond). 2010 Jan;24(1):158–64. doi:https://doi.org/10.1038/eye.2009.35. PMID:19265867.
- Lee W, Zernant J, Nagasaki T, Tsang SH, Allikmets R. Deep scleral exposure: a degenerative outcome of end-stage stargardt disease. Am J Ophthalmol. 2018 Nov;195:16–25. doi:https://doi.org/10.1016/j.ajo.2018.07.018. PMID:30055151 PMCID:PMC6547128
- Rivera A, White K, Stöhr H, Steiner K, Hemmrich N, Grimm T, Jurklies B, Lorenz B, Scholl HP, Apfelstedt-Sylla E, et al. A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am J Hum Genet. 2000 Oct;67(4):800–13. doi:https://doi.org/10.1086/303090. PMID:10958763 PMCID:PMC1287885.
- Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y. Screening of ABCA4 gene in a Chinese cohort with stargardt disease or cone-rod dystrophy with a report on 85 novel mutations. Invest Ophthalmol Vis Sci. 2016 Jan 1;57(1):145–52. doi:https://doi.org/10.1167/iovs.15-18190. PMID: 26780318
- Xu Y, Guan L, Shen T, Zhang J, Xiao X, Jiang H, Li S, Yang J, Jia X, Yin Y, et al. Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. Hum Genet. 2014 Oct;133(10):1255–71. doi:https://doi.org/10.1007/s00439-014-1460-2. Epub 2014 Jun 18. PMID: 24938718.
- den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, et al. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet. 2001 Jul;69(1):198–203. doi:https://doi.org/10.1086/321263. Epub 2001 May 24. Erratum in: Am J Hum Genet 2001 Nov;69(5):1160.PMID: 11389483; PMCID: PMC1226034.
- Tuson M, Marfany G, Gonzàlez-Duarte R. Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). Am J Hum Genet. 2004 Jan;74(1):128–38. doi:https://doi.org/10.1086/381055. Epub 2003 Dec 16. PMID: 14681825; PMCID: PMC1181900.
- Stenirri S, Alaimo G, Manitto MP, Brancato R, Ferrari M, Cremonesi L. Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations? Clin Chem Lab Med. 2008;46(9):1250–55. doi:https://doi.org/10.1515/CCLM.2008.248. PMID: 18652558.
- Gu S, Kumaramanickavel G, Srikumari CR, Denton MJ, Gal A. Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family. J Med Genet. 1999 Sep;36(9):705–07. PMID: 10507729; PMCID: PMC1734432.
- Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 2002 Jun;70(6):1545–54. doi:https://doi.org/10.1086/340848. Epub 2002 Apr 30. PMID: 11992260; PMCID: PMC379141.
- Collin RW, Littink KW, Klevering BJ, Van Den Born LI, Koenekoop RK, Zonneveld MN, Blokland EA, Strom TM, Hoyng CB, Den Hollander AI, et al. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet. 2008 Nov;83(5):594–603. doi:https://doi.org/10.1016/j.ajhg.2008.10.014. Epub 2008 Oct 30. PMID: 18976725; PMCID: PMC2668042.
- Rozet JM, Gerber S, Souied E, Perrault I, Châtelin S, Ghazi I, Leowski C, Dufier JL, Munnich A, Kaplan J. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet. 1998 May-Jun;6(3):291–95. doi:https://doi.org/10.1038/sj.ejhg.5200221. Erratum in: Eur J Hum Genet 1999 Jan;7(1):102.PMID: 9781034.
- Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive stargardt macular dystrophy. Nat Genet. 1997 Mar;15(3):236–46. doi:https://doi.org/10.1038/ng0397-236. Erratum in: Nat Genet. 1997 Sep;17(1):122.PMID: 9054934.
- Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet. 1998 Aug;19(4):327–32. doi:https://doi.org/10.1038/1214. PMID: 9697692.
- Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC, Lukowski R, et al., . A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7; 91(3): 527–32. doi: https://doi.org/10.1016/j.ajhg.2012.07.006. Epub 2012 Aug 16. PMID: 22901948; PMCID: PMC3511981
- Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, et al. Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease. Am J Hum Genet. 2017 Jan 5; 100(1): 75–90. doi: https://doi.org/10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. PMID: 28041643; PMCID: PMC5223092
- Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, et al. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet. 2004 May;74(5):817–26. doi:https://doi.org/10.1086/383228. Epub 2004 Mar 23. PMID: 15042513; PMCID: PMC1181977.
- Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, et al. Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One. 2013 Nov 12;8(11):e78496. doi:https://doi.org/10.1371/journal.pone.0078496. Erratum in: PLoS One. 2014;9(11):e108840.PMID: 24265693; PMCID: PMC3827063
- Mackay DS, Dev Borman A, Moradi P, Henderson RH, Li Z, Wright GA, Waseem N, Gandra M, Thompson DA, Bhattacharya SS, et al. RDH12 retinopathy: novel mutations and phenotypic description. Mol Vis. 2011;17, 2706–16. Epub 2011 Oct 19. PMID: 22065924; PMCID: PMC3209419
- Maugeri A, Klevering BJ, Rohrschneider K, Blankenagel A, Brunner HG, Deutman AF, Hoyng CB, Cremers FP. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet. 2000 Oct;67(4):960–66. doi:https://doi.org/10.1086/303079. Epub 2000 Aug 24. PMID: 10958761; PMCID: PMC1287897.
- Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, et al. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. Eur J Hum Genet. 2015 Oct;23(10):1318–27. doi:https://doi.org/10.1038/ejhg.2014.283. Epub 2015 Feb 4. PMID: 25649381; PMCID: PMC4592079.
- Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, et al. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet. 2000 Apr;66(4):1199–210. doi:https://doi.org/10.1086/302855. Epub 2000 Mar 22. Erratum in: Am J Hum Genet 2000 Jun;66(6):2020. Greenburg J [corrected to Greenberg J]. PMID: 10729113; PMCID: PMC1288187.
- Tiab L, Largueche L, Chouchane I, Derouiche K, Munier FL, El Matri L, Schorderet DF. A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa. Mol Vis, 2013 Apr 5;19: 829–34. PMID: 23592920; PMCID: PMC3626296.
- Abd El-Aziz MM, Barragan I, O’Driscoll CA, Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, et al. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat Genet. 2008 Nov;40(11):1285–87. doi:https://doi.org/10.1038/ng.241. Epub 2008 Oct 5. PMID: 18836446; PMCID: PMC2719291.
- Ernest PJ, Boon CJ, Klevering BJ, Hoefsloot LH, Hoyng CB. Outcome of ABCA4 microarray screening in routine clinical practice. Mol Vis, 2009 Dec 20;15: 2841–47. PMID: 20029649; PMCID: PMC2796636.
- Sharon D, Banin E. Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. Mol Vis, 2015 Jul 17;21: 783–92. PMID: 26261414; PMCID: PMC4506056.
- Singh R, Fujinami K, Chen LL, Michaelides M, Moore AT. Longitudinal follow-up of siblings with a discordant Stargardt disease phenotype. Acta Ophthalmol. 2014 Jun;92(4):e331–2. doi:https://doi.org/10.1111/aos.12280. Epub 2014 Jan 16. PMID: 24428930.
- Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, et al. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat. 2004 Apr;23(4):306–17. doi:https://doi.org/10.1002/humu.20010. PMID: 15024725.
- Battu R, Verma A, Hariharan R, Krishna S, Kiran R, Jacob J, Ganapathy A, Ramprasad VL, Kumaramanickavel G, Jeyabalan N, et al. Identification of novel mutations in ABCA4 gene: clinical and genetic analysis of Indian patients with stargardt disease. Biomed Res Int. 2015;2015:940864. doi:https://doi.org/10.1155/2015/940864. PMID:25922843 PMCID:PMC4398921.
- Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, et al. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet. 2005 Dec 15;14(24):3865–75. doi:https://doi.org/10.1093/hmg/ddi411. PMID:16269441
- Auslender N, Bandah D, Rizel L, Behar DM, Shohat M, Banin E, Allon-Shalev S, Sharony R, Sharon D, Ben-Yosef T. Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. Genet Test. 2008 Jun;12(2):289–94. doi:https://doi.org/10.1089/gte.2007.0107. PMID:18452394.
- Al-Rashed M, Abu Safieh L, Alkuraya H, Aldahmesh MA, Alzahrani J, Diya M, Hashem M, Hardcastle AJ, Al-Hazzaa SA, Alkuraya FS. RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism. Br J Ophthalmol. 2012 Jul;96(7):1018–22. doi:https://doi.org/10.1136/bjophthalmol-2011-301134. PMID:22317909.