1. Berger W, Kloeckener-Gruissem B, Neidhardt J. The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res. 2010; 29(5):335–375.
2. Dias MF, Joo K, Kemp JA, Fialho SL, da Silva Cunha A Jr, Woo SJ, et al. Molecular genetics and emerging therapies for retinitis pigmentosa: basic research and clinical perspectives. Prog Retin Eye Res. 2018; 63:107–131.
3. Colella P, Auricchio A. Gene therapy of inherited retinopathies: a long and successful road from viral vectors to patients. Hum Gene Ther. 2012; 23(8):796–807.
4. Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, et al. ABCA4 gene screening by next-generation sequencing in a British cohort. Invest Ophthalmol Vis Sci. 2013; 54(10):6662–6674.
5. Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, et al. Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Invest Ophthalmol Vis Sci. 2014; 55(11):7369–7375.
6. Sun Y, Ruivenkamp CA, Hoffer MJ, Vrijenhoek T, Kriek M, van Asperen CJ, et al. Next-generation diagnostics: gene panel, exome, or whole genome? Hum Mutat. 2015; 36(6):648–655.
7. Yoon CK, Kim NK, Joung JG, Shin JY, Park JH, Eum HH, et al. The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa. BMC Genomics. 2015; 16(1):515.
8. Sung Y, Choi SW, Shim SH, Song WK. Clinical and genetic characteristics analysis of Korean Patients with Stargardt disease using targeted exome sequencing. Ophthalmologica. 2019; 241(1):38–48.
9. Littink KW, van den Born LI, Koenekoop RK, Collin RW, Zonneveld MN, Blokland EA, et al. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. Ophthalmology. 2010; 117(10):2026–2033.e7.
10. 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; 24(1):158–164.
11. Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, et al. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet. 2014; 22(1):99–104.
12. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M, et al. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol. 2009; 118(1):69–77.
13. Seong MW, Seo SH, Yu YS, Hwang JM, Cho SI, Ra EK, et al. Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity. J Mol Diagn. 2015; 17(1):100–105.
14. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, 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 Molecular Pathology. Genet Med. 2015; 17(5):405–424.
15. Li Q, Wang K. InterVar: clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines. Am J Hum Genet. 2017; 100(2):267–280.
16. Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, et al. Gene therapy for Leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol. 2012; 130(1):9–24.
17. Andrieu-Soler C, Bejjani RA, de Bizemont T, Normand N, BenEzra D, Behar-Cohen F. Ocular gene therapy: a review of nonviral strategies. Mol Vis. 2006; 12:1334–1347.
18. Lee SH, Yu HG, Seo JM, Moon SW, Moon JW, Kim SJ, et al. Hereditary and clinical features of retinitis pigmentosa in Koreans. J Korean Med Sci. 2010; 25(6):918–923.
19. Abd El-Aziz MM, O’Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, et al. Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2010; 51(8):4266–4272.
20. Iwanami M, Oshikawa M, Nishida T, Nakadomari S, Kato S. High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2012; 53(2):1033–1040.
21. Barragán I, Borrego S, Pieras JI, González-del Pozo M, Santoyo J, Ayuso C, et al. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat. 2010; 31(11):E1772–E1800.
22. Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, et al. Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest Ophthalmol Vis Sci. 2010; 51(9):4387–4394.
23. Xin W, Xiao X, Li S, Jia X, Guo X, Zhang Q. Identification of genetic defects in 33 probands with Stargardt disease by WES-based bioinformatics gene panel analysis. PLoS One. 2015; 10(7):e0132635.
24. Hargitai J, Zernant J, Somfai GM, Vamos R, Farkas A, Salacz G, et al. Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease. Invest Ophthalmol Vis Sci. 2005; 46(12):4402–4408.
25. Zaneveld J, Siddiqui S, Li H, Wang X, Wang H, Wang K, et al. Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genet Med. 2015; 17(4):262–270.
26. Yi J, Li S, Jia X, Xiao X, Wang P, Guo X, et al. Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration. Mol Med Rep. 2012; 6(5):1045–1049.
27. Roosing S, Thiadens AA, Hoyng CB, Klaver CC, den Hollander AI, Cremers FP. Causes and consequences of inherited cone disorders. Prog Retin Eye Res. 2014; 42:1–26.
28. Sung CH, Davenport CM, Hennessey JC, Maumenee IH, Jacobson SG, Heckenlively JR, et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991; 88(15):6481–6485.
29. Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet. 1999; 22(3):248–254.
30. Kim HT, Jang JH, Kang K, Ki CS, Chung H. Identification of compound heterozygous EYS variants in a Korean patient with retinitis pigmentosa. Lab Med Online. 2018; 8(2):66–70.
31. Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, et al. Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population. PLoS One. 2012; 7(2):e31036.
32. McLaughlin ME, Sandberg MA, Berson EL, Dryja TP. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet. 1993; 4(2):130–134.
33. Cheng LL, Han RY, Yang FY, Yu XP, Xu JL, Min QJ, et al. Novel mutations in PDE6B causing human retinitis pigmentosa. Int J Ophthalmol. 2016; 9(8):1094–1099.
34. Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, 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; 23(10):1318–1327.
35. Zhang S, Li J, Li S, Yang Y, Yang M, Yang Z, et al. Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family. Ophthalmic Genet. 2018; 39(4):487–491.
36. Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, et al. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. Hum Mutat. 2013; 34(3):506–514.
37. Han J, Rim JH, Hwang IS, Kim J, Shin S, Lee ST, et al. Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. Mol Vis. 2017; 23:649–659.
38. Lazar CH, Mutsuddi M, Kimchi A, Zelinger L, Mizrahi-Meissonnier L, Marks-Ohana D, et al. Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. Invest Ophthalmol Vis Sci. 2014; 56(1):420–430.
39. Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, et al. The PROM1 mutation p.R373C causes an autosomal dominant bull’s eye maculopathy associated with rod, rod-cone, and macular dystrophy. Invest Ophthalmol Vis Sci. 2010; 51(9):4771–4780.
40. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, 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 Molecular Pathology. Genet Med. 2015; 17(5):405–424.
41. Sundaram V, Wilde C, Aboshiha J, Cowing J, Han C, Langlo CS, et al. Retinal structure and function in achromatopsia: implications for gene therapy. Ophthalmology. 2014; 121(1):234–245.
42. Zhang X, Ge X, Shi W, Huang P, Min Q, Li M, et al. Molecular diagnosis of putative Stargardt disease by capture next generation sequencing. PLoS One. 2014; 9(4):e95528.
43. Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, et al. Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies. Mol Vis. 2016; 22:150–160.