Sahel J-A, Marazova K, Audo I (2014) Clinical characteristics and current therapies for inherited retinal degenerations. Cold Spring Harb Perspect Med 5:a017111

Article  PubMed  Google Scholar 

Georgiou M, Fujinami K, Michaelides M (2021) Inherited retinal diseases: therapeutics, clinical trials and end points-a review. Clin Experiment Ophthalmol 49:270–288

Article  PubMed  Google Scholar 

Vázquez-Domínguez I, Garanto A, Collin RWJ (2019) Molecular therapies for inherited retinal diseases-current standing, opportunities and challenges. Genes 10. https://doi.org/10.3390/genes10090654

Bessant DA, Ali RR, Bhattacharya SS (2001) Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev 11:307–316

Article  CAS  PubMed  Google Scholar 

Sohocki MM, Daiger SP, Bowne SJ et al (2001) Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat 17:42–51

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sengillo JD, Justus S, Tsai Y-T et al (2016) Gene and cell-based therapies for inherited retinal disorders: an update. Am J Med Genet C Semin Med Genet 172:349–366

Article  PubMed  PubMed Central  Google Scholar 

Cwerman-Thibault H, Augustin S, Ellouze S et al (2014) Gene therapy for mitochondrial diseases: Leber hereditary optic neuropathy as the first candidate for a clinical trial. C R Biol 337:193–206

Article  PubMed  Google Scholar 

Galvin O, Chi G, Brady L et al (2020) The impact of inherited retinal diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a cost-of-illness perspective. Clin Ophthalmol 14:707–719

Article  PubMed  PubMed Central  Google Scholar 

Gong J, Cheung S, Fasso-Opie A et al (2021) The impact of inherited retinal diseases in the United States of America (US) and Canada from a cost-of-illness perspective. Clin Ophthalmol 15:2855–2866

Article  PubMed  PubMed Central  Google Scholar 

Hartong DT, Berson EL, Dryja TP (2006) Retinitis pigmentosa. Lancet 368:1795–1809

Article  CAS  PubMed  Google Scholar 

Moore AT (1992) Cone and cone-rod dystrophies. J Med Genet 29:289–290

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tanaka K, Lee W, Zernant J et al (2018) The rapid-onset chorioretinopathy phenotype of ABCA4 disease. Ophthalmology 125:89–99

Article  PubMed  Google Scholar 

Bauwens M, Garanto A, Sangermano R et al (2019) ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel non-coding splice, cis-regulatory, structural, and recurrent hypomorphic variants. Genet Med 21:1761–1771

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ferrari S, Di Iorio E, Barbaro V et al (2011) Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics 12:238–249

Article  CAS  PubMed  PubMed Central  Google Scholar 

Retinal Information Network. https://web.sph.uth.edu/RetNet/. Accessed 10 Jun 2023

Britten-Jones AC, Gocuk SA, Goh KL et al (2022) The diagnostic yield of next generation sequencing in inherited retinal diseases: a systematic review and meta-analysis. Am J Ophthalmol 249:57–73

Article  PubMed  Google Scholar 

Ellingford JM, Barton S, Bhaskar S et al (2016) Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease. Ophthalmology 123:1143–1150

Article  PubMed  Google Scholar 

Kim KJ, Kim C, Bok J et al (2011) Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa. Mol Vis 17:844–853

CAS  PubMed  PubMed Central  Google Scholar 

Lee SH, Yu HG, Seo JM et al (2010) Hereditary and clinical features of retinitis pigmentosa in Koreans. J Korean Med Sci 25:918–923

Article  PubMed  PubMed Central  Google Scholar 

Yoon C-K, Kim NKD, Joung J-G et al (2015) The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa. BMC Genomics 16:515

Article  PubMed Central  Google Scholar 

Oishi M, Oishi A, Gotoh N et al (2014) Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Invest Ophthalmol Vis Sci 55:7369–7375

Article  CAS  PubMed  Google Scholar 

Xu Y, Guan L, Shen T et al (2014) Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. Hum Genet 133:1255–1271

Article  PubMed  Google Scholar 

Tiwari A, Bahr A, Bähr L et al (2016) Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Sci Rep 6:28755

Article  CAS  PubMed  PubMed Central  Google Scholar 

Haer-Wigman L, van Zelst-Stams WA, Pfundt R et al (2017) Diagnostic exome sequencing in 266 Dutch patients with visual impairment. Eur J Hum Genet 25:591–599

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ma DJ, Lee H-S, Kim K et al (2021) Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. BMC Med Genomics 14:74

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vasimuddin M, Misra S, Li H, Aluru S (2019) Efficient architecture-aware acceleration of BWA-MEM for multicore systems. In: 2019 IEEE international parallel and distributed processing symposium (IPDPS), pp 314–324

Google Scholar 

Richards S, Aziz N, Bale S 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 17:405–423

Article  PubMed  PubMed Central  Google Scholar 

Kaur A, Dhir SK, Goyal G et al (2016) Senior Loken syndrome. Journal of Clinical and Diagnostic Research 10:SD03–SD04

Dockery A, Whelan L, Humphries P, Farrar GJ (2021) Next-generation sequencing applications for inherited retinal diseases. Int J Mol Sci 22. https://doi.org/10.3390/ijms22115684

Nash BM, Ma A, Ho G et al (2022) Whole genome sequencing, focused assays and functional studies increasing understanding in cryptic inherited retinal dystrophies. Int J Mol Sci 23. https://doi.org/10.3390/ijms23073905

Park ST, Kim J (2016) Trends in next-generation sequencing and a new era for whole genome sequencing. Int Neurourol J 20:S76–S83

Article  PubMed  PubMed Central  Google Scholar 

Frio TR, Wade NM, Ransijn A et al (2008) Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest 118:1519–1531

Article  CAS  Google Scholar 

Su B-N, Shen R-J, Liu Z-L et al (2022) Global spectrum of USH2A mutation in inherited retinal dystrophies: prompt message for development of base editing therapy. Front Aging Neurosci 14:948279

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li W, Jiang X-S, Han D-M et al (2022) Genetic characteristics and variation spectrum of USH2A-related retinitis pigmentosa and Usher syndrome. Front Genet 13:900548

Article  CAS  PubMed  PubMed Central  Google Scholar 

Inaba A, Maeda A, Yoshida A et al (2020) Truncating variants contribute to hearing loss and severe retinopathy in USH2A-associated retinitis pigmentosa in Japanese patients. Int J Mol Sci 21. https://doi.org/10.3390/ijms21217817

Meng X, Liu X, Li Y et al (2021) Correlation between genotype and phenotype in 69 Chinese patients with USH2A mutations: a comparative study of the patients with Usher syndrome and nonsyndromic retinitis pigmentosa. Acta Ophthalmol 99:e447–e460

Article  CAS  PubMed  Google Scholar 

Turnbull C, Scott RH, Thomas E et al (2018) The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ 361:k1687

Article  PubMed  Google Scholar