{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T03:00:46Z","timestamp":1784948446760,"version":"3.55.0"},"reference-count":44,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T00:00:00Z","timestamp":1784937600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T00:00:00Z","timestamp":1784937600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Doc Ophthalmol"],"DOI":"10.1007\/s10633-026-10135-5","type":"journal-article","created":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T02:27:03Z","timestamp":1784946423000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and genetic spectrum of genetic eye diseases seen in two newly developed ophthalmic genetics clinics: two-year experience"],"prefix":"10.1007","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5856-2135","authenticated-orcid":false,"given":"Caroline Atef","family":"Tawfik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8818-8623","authenticated-orcid":false,"given":"Maged Maher","family":"Roshdy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,25]]},"reference":[{"key":"10135_CR1","doi-asserted-by":"publisher","first-page":"1932","DOI":"10.1056\/nejmra1012354","volume":"364","author":"VC Sheffield","year":"2011","unstructured":"Sheffield VC, Stone EM (2011) Genomics and the eye. N Engl J Med 364:1932\u20131942. https:\/\/doi.org\/10.1056\/nejmra1012354","journal-title":"N Engl J Med"},{"key":"10135_CR2","doi-asserted-by":"publisher","first-page":"935","DOI":"10.4103\/ijo.IJO_1177_22","volume":"71","author":"A Sahu","year":"2023","unstructured":"Sahu A, Kaur S, Sukhija J, Srivastava P, Kaur A (2023) Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: experience of a developing ocular genetic service. Indian J Ophthalmol 71:935\u2013940. https:\/\/doi.org\/10.4103\/ijo.IJO_1177_22","journal-title":"Indian J Ophthalmol"},{"key":"10135_CR3","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2021.101029","volume":"89","author":"N Schneider","year":"2022","unstructured":"Schneider N, Sundaresan Y, Gopalakrishnan P, Beryozkin A, Hanany M, Levanon EY, Banin E, Ben-Aroya S, Sharon D (2022) Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities. Prog Retin Eye Res 89:101029. https:\/\/doi.org\/10.1016\/j.preteyeres.2021.101029","journal-title":"Prog Retin Eye Res"},{"key":"10135_CR4","doi-asserted-by":"publisher","unstructured":"Mohan S, Satagopan U, Nagasamy S, Natarajan S, Kumaramanickavel G (2019) Genetics and susceptibility of retinal eye diseases in India. In: Prakash G, Iwata T (eds) Advances in Vision Research, Volume II. Essentials in Ophthalmology. Springer, Singapore. https:\/\/doi.org\/10.1007\/978-981-13-0884-0_15","DOI":"10.1007\/978-981-13-0884-0_15"},{"key":"10135_CR5","doi-asserted-by":"publisher","first-page":"1249","DOI":"10.1038\/sj.eye.6702837","volume":"21","author":"JS Rahi","year":"2007","unstructured":"Rahi JS (2007) Childhood blindness: a UK epidemiological perspective. Eye 21:1249\u20131253. https:\/\/doi.org\/10.1038\/sj.eye.6702837","journal-title":"Eye"},{"key":"10135_CR6","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1186\/1471-2458-6-58","volume":"6","author":"C Bunce","year":"2006","unstructured":"Bunce C, Wormald R (2006) Leading causes of certification for blindness and partial sight in England & Wales. BMC Public Health 6:58. https:\/\/doi.org\/10.1186\/1471-2458-6-58","journal-title":"BMC Public Health"},{"key":"10135_CR7","doi-asserted-by":"publisher","unstructured":"MacDonald IM, Tran M, Musarella MA (2004)\nOcular genetics: current understanding. Surv Ophthalmol 49(2):159\u2013196. https:\/\/doi.org\/10.1016\/j.survophthal.2003.12.003","DOI":"10.1016\/j.survophthal.2003.12.003"},{"key":"10135_CR8","doi-asserted-by":"publisher","first-page":"734","DOI":"10.3129\/can","volume":"42","author":"Y Morad","year":"2007","unstructured":"Morad Y, Sutherland J, Dasilva L, Ulster A, Shik J, Gallie B, H\u00e9on E, Levin AV (2007) The ocular genetics program: multidisciplinary care of patients with ocular genetic eye disease. Can J Ophthalmol 42:734\u2013738. https:\/\/doi.org\/10.3129\/can","journal-title":"Can J Ophthalmol"},{"key":"10135_CR9","doi-asserted-by":"publisher","first-page":"50","DOI":"10.3109\/13816810.2014.985845","volume":"36","author":"P Ganne","year":"2015","unstructured":"Ganne P, Garrioch R, Votruba M (2015) Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting. Ophthalmic Genet 36:50\u201357. https:\/\/doi.org\/10.3109\/13816810.2014.985845","journal-title":"Ophthalmic Genet"},{"key":"10135_CR10","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1093\/epirev\/mxr008","volume":"33","author":"W Burke","year":"2011","unstructured":"Burke W, Tarini B, Press NA, Evans JP (2011) Genetic screening. Epidemiol Rev 33:148\u2013164. https:\/\/doi.org\/10.1093\/epirev\/mxr008","journal-title":"Epidemiol Rev"},{"issue":"6","key":"10135_CR11","doi-asserted-by":"publisher","first-page":"897","DOI":"10.1038\/s41431-020-00754-0","volume":"29","author":"L Jaffal","year":"2021","unstructured":"Jaffal L, Joumaa H, Mrad Z, Zeitz C, Audo I, El Shamieh S (2021) The genetics of rod-cone dystrophy in Arab countries: a systematic review. Eur J Hum Genet 29(6):897\u2013910","journal-title":"Eur J Hum Genet"},{"key":"10135_CR12","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-023-01518-7","author":"L Jaffal","year":"2023","unstructured":"Jaffal L, Joumaa H, Noureldine J, Banjak M, Ibrahim M, Mrad Z, Salami A, Shamieh SE (2023) The genetic landscape of inherited retinal dystrophies in Arabs. BMC Med Genomics. https:\/\/doi.org\/10.1186\/s12920-023-01518-7","journal-title":"BMC Med Genomics"},{"key":"10135_CR13","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1038\/eye.2015.3","volume":"29","author":"AC Day","year":"2015","unstructured":"Day AC, Donachie PHJ, Sparrow JM, Johnston RL (2015) The Royal College of Ophthalmologists\u2019 National Ophthalmology Database study of cataract surgery: report 1, visual outcomes and complications. Eye (Lond) 29:552\u2013560. https:\/\/doi.org\/10.1038\/eye.2015.3","journal-title":"Eye (Lond)"},{"key":"10135_CR14","unstructured":"Blindness and vision impairment, https:\/\/www.who.int\/news-room\/fact-sheets\/detail\/blindness-and-visual-impairment"},{"key":"10135_CR15","doi-asserted-by":"publisher","first-page":"217","DOI":"10.3109\/09286586.2014.929710","volume":"21","author":"M Bertelsen","year":"2014","unstructured":"Bertelsen M, Jensen H, Bregnhoj JF, Rosenberg T (2014) Prevalence of generalized retinal dystrophy in Denmark. Ophthalmic Epidemiol 21:217\u2013223. https:\/\/doi.org\/10.3109\/09286586.2014.929710","journal-title":"Ophthalmic Epidemiol"},{"key":"10135_CR16","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1038\/ejhg.2012.115","volume":"21","author":"E Forsythe","year":"2013","unstructured":"Forsythe E, Beales PL (2013) Bardet\u2013Biedl syndrome. Eur J Hum Genet 21:8\u201313. https:\/\/doi.org\/10.1038\/ejhg.2012.115","journal-title":"Eur J Hum Genet"},{"key":"10135_CR17","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1097\/IAE.0b013e31827e2306","volume":"33","author":"A Vincent","year":"2013","unstructured":"Vincent A, Robson AG, Holder GE (2013) Pathognomonic (diagnostic) ERGs a review and update. Retina 33:5\u201312. https:\/\/doi.org\/10.1097\/IAE.0b013e31827e2306","journal-title":"Retina"},{"key":"10135_CR18","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0014272","volume":"5","author":"P Baum","year":"2010","unstructured":"Baum P, Schmid R, Ittrich C, Rust W, Fundel-Clemens K, Siewert S, Baur M, Mara L, Gruenbaum L, Heckel A, Eils R, Kontermann RE, Roth GJ, Gantner F, Schnapp A, Park JE, Weith A, Quast K, Mennerich D (2010) Phenocopy\u2014a strategy to qualify chemical compounds during hit-to-lead and\/or lead optimization. PLoS ONE 5:e14272. https:\/\/doi.org\/10.1371\/journal.pone.0014272","journal-title":"PLoS ONE"},{"key":"10135_CR19","doi-asserted-by":"publisher","first-page":"2408","DOI":"10.1016\/j.ophtha.2012.05.047","volume":"119","author":"EM Stone","year":"2012","unstructured":"Stone EM, Aldave AJ, Drack AV, MacCumber MW, Sheffield VC, Traboulsi E, Weleber RG (2012) Recommendations for genetic testing of inherited eye diseases. Ophthalmology 119:2408\u20132410. https:\/\/doi.org\/10.1016\/j.ophtha.2012.05.047","journal-title":"Ophthalmology"},{"issue":"3","key":"10135_CR20","doi-asserted-by":"publisher","first-page":"P1","DOI":"10.1016\/j.ophtha.2022.10.031","volume":"130","author":"DS Jacobs","year":"2023","unstructured":"Jacobs DS, Afshari NA, Bishop RJ, Keenan JD, Lee J, Shen TT, Vitale S (2023) Refractive errors preferred practice pattern\u00ae. Ophthalmology 130(3):P1\u2013P60. https:\/\/doi.org\/10.1016\/j.ophtha.2022.10.031","journal-title":"Ophthalmology"},{"issue":"1","key":"10135_CR21","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1186\/s12886-023-03163-1","volume":"23","author":"CA Tawfik","year":"2023","unstructured":"Tawfik CA, Roshdy MM, Morris NM (2023) Prevalence of inherited retinal diseases in a large Egyptian cohort. BMC Ophthalmol 23(1):422. https:\/\/doi.org\/10.1186\/s12886-023-03163-1","journal-title":"BMC Ophthalmol"},{"issue":"1","key":"10135_CR22","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1186\/s13023-024-03242-6","volume":"19","author":"A Lopez-de la Rosa","year":"2024","unstructured":"Lopez-de la Rosa A, Telleria JJ, Posada de la Paz M, Hermosilla-Gimeno IM, Rivas MA, Gilabert R, Coco-Mart\u00edn RM (2024) Clinical and genetic characterization of patients with eye diseases included in the Spanish rare diseases patient registry. Orphanet J Rare Dis 19(1):234. https:\/\/doi.org\/10.1186\/s13023-024-03242-6","journal-title":"Orphanet J Rare Dis"},{"key":"10135_CR23","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1002\/ajmg.c.31825","volume":"184","author":"BC Mansfield","year":"2020","unstructured":"Mansfield BC, Yerxa BR, Branham KH (2020) Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non\u2010profit foundation. Am J Med Genet C Semin Med Genet 184:838\u2013845. https:\/\/doi.org\/10.1002\/ajmg.c.31825","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10135_CR24","doi-asserted-by":"publisher","first-page":"1384","DOI":"10.1016\/j.ophtha.2020.04.008","volume":"127","author":"N Pontikos","year":"2020","unstructured":"Pontikos N, Arno G, Jurkute N, Schiff E, Ba-Abbad R, Malka S, Gimenez A, Georgiou M, Wright G, Armengol M, Knight H, Katz M, Moosajee M, Yu-Wai-Man P, Moore AT, Michaelides M, Webster AR, Mahroo OA (2020) Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the United Kingdom. Ophthalmology 127:1384\u20131394. https:\/\/doi.org\/10.1016\/j.ophtha.2020.04.008","journal-title":"Ophthalmology"},{"key":"10135_CR25","doi-asserted-by":"publisher","first-page":"762","DOI":"10.1002\/ajmg.c.31824","volume":"184","author":"C M\u00e9j\u00e9case","year":"2020","unstructured":"M\u00e9j\u00e9case C, Kozak I, Moosajee M (2020) The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates. Am J Med Genet C Semin Med Genet 184:762\u2013772. https:\/\/doi.org\/10.1002\/ajmg.c.31824","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10135_CR26","doi-asserted-by":"publisher","first-page":"48","DOI":"10.29063\/ajrh2022\/v26i12s.6","volume":"26","author":"WM Hussein","year":"2022","unstructured":"Hussein WM, El-Gaafary MM, Wassif GO, Wahdan MM, Sos DG, Hakim SA, Abdelhafez AM, El-Awady MY, Rady MH, Amin TT, Anwar WA (2022) Correlates and reproductive consequences of consanguinity in six Egyptian governorates. Afr J Reprod Health 26:48\u201356. https:\/\/doi.org\/10.29063\/ajrh2022\/v26i12s.6","journal-title":"Afr J Reprod Health"},{"key":"10135_CR27","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1111\/cge.12798","volume":"91","author":"KN Khan","year":"2017","unstructured":"Khan KN, Chana R, Ali N, Wright G, Webster AR, Moore AT, Michaelides M (2017) Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK national health service. Clin Genet 91:38\u201345. https:\/\/doi.org\/10.1111\/cge.12798","journal-title":"Clin Genet"},{"key":"10135_CR28","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1016\/j.ajo.2024.09.011","volume":"269","author":"SH Yassin","year":"2025","unstructured":"Yassin SH, Wagner NE, Khuu T, Schmidt R, Igelman AD, Marra M, Schwartz H, Walker E, Nagiel A, Yang P, Everett LA, Pennesi ME, Borooah S (2025) Refractive error in inherited retinal disease. Am J Ophthalmol 269:381\u2013392. https:\/\/doi.org\/10.1016\/j.ajo.2024.09.011","journal-title":"Am J Ophthalmol"},{"key":"10135_CR29","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1055\/a-0573-9199","volume":"235","author":"C Gerth-Kahlert","year":"2018","unstructured":"Gerth-Kahlert C, Koller S (2018) Retinale Ziliopathien. Klin Monbl Augenheilkd 235:264\u2013272. https:\/\/doi.org\/10.1055\/a-0573-9199","journal-title":"Klin Monbl Augenheilkd"},{"key":"10135_CR30","doi-asserted-by":"publisher","first-page":"1403","DOI":"10.1136\/bjo-2022-321790","volume":"107","author":"TACde Guimaraes","year":"2023","unstructured":"Guimaraes TACde, Arram E, Shakarchi AF, Georgiou M, Michaelides M (2023) Inherited causes of combined vision and hearing loss: clinical features and molecular genetics. Br J Ophthalmol 107:1403\u20131414. https:\/\/doi.org\/10.1136\/bjo-2022-321790","journal-title":"Br J Ophthalmol"},{"issue":"3","key":"10135_CR31","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1007\/s00417-023-06153-7","volume":"262","author":"B Arias-Peso","year":"2024","unstructured":"Arias-Peso B, Calero-Ramos ML, Garc\u00eda L-L, de la Borbolla C, Lopez-Dominguez M, Morillo-Sanchez MJ, Mendez-Martinez S, Sanchez-Gomez S, Rodriguez-de-la-Rua E (2024) Multidisciplinary approach to inherited causes of dual sensory impairment. Graefe\u2019s Arch Clin Exp Ophthalmol 262(3):701\u2013715","journal-title":"Graefe's Arch Clin Exp Ophthalmol"},{"key":"10135_CR32","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1002\/ajmg.c.31836","volume":"184","author":"S Hull","year":"2020","unstructured":"Hull S, Kiray G, Chiang JP, Vincent AL (2020) Molecular and phenotypic investigation of a New Zealand cohort of childhood\u2010onset retinal dystrophy. Am J Med Genet C Semin Med Genet 184:708\u2013717. https:\/\/doi.org\/10.1002\/ajmg.c.31836","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10135_CR33","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1002\/ajmg.c.31832","volume":"184","author":"M Daich Varela","year":"2020","unstructured":"Daich Varela M, Moya R, Schlottmann PG, Hufnagel RB, Arberas C, Fern\u00e1ndez FM, Inga ME, Lores J, Pachajoa H, Prada CE, Sallum JMF (2020) Ophthalmic genetics in South America. Am J Med Genet C Semin Med Genet 184:753\u2013761. https:\/\/doi.org\/10.1002\/ajmg.c.31832","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10135_CR34","doi-asserted-by":"publisher","DOI":"10.3390\/genes16080888","volume":"16","author":"AC Britten-Jones","year":"2025","unstructured":"Britten-Jones AC, Hickey DG, Edwards TL, Ayton LN (2025) Panel-based genetic testing in a consecutive series of individuals with inherited retinal diseases in Australia: identifying predictors of a diagnosis. Genes 16:888. https:\/\/doi.org\/10.3390\/genes16080888","journal-title":"Genes"},{"key":"10135_CR35","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-34380-0","volume":"8","author":"FL Motta","year":"2018","unstructured":"Motta FL, Martin RP, Filippelli-Silva R, Salles MV, Sallum JMF (2018) Relative frequency of inherited retinal dystrophies in Brazil. Sci Rep 8:15939. https:\/\/doi.org\/10.1038\/s41598-018-34380-0","journal-title":"Sci Rep"},{"key":"10135_CR36","doi-asserted-by":"publisher","first-page":"1314","DOI":"10.1016\/j.ophtha.2017.04.008","volume":"124","author":"EM Stone","year":"2017","unstructured":"Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA (2017) Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease. Ophthalmology 124:1314\u20131331. https:\/\/doi.org\/10.1016\/j.ophtha.2017.04.008","journal-title":"Ophthalmology"},{"key":"10135_CR37","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1055\/s-0032-1327929","volume":"230","author":"S Kohl","year":"2012","unstructured":"Kohl S, Biskup S (2012) Genetische Diagnostik bei erblichen Netzhautdystrophien. Klin Monbl Augenheilkd 230:243\u2013246. https:\/\/doi.org\/10.1055\/s-0032-1327929","journal-title":"Klin Monbl Augenheilkd"},{"key":"10135_CR38","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1038\/s41431-019-0548-5","volume":"28","author":"OA Jiman","year":"2020","unstructured":"Jiman OA, Taylor RL, Lenassi E, Smith JC, Douzgou S, Ellingford JM, Barton S, Hardcastle C, Fletcher T, Campbell C, Ashworth J, Biswas S, Ramsden SC, Manson FD, Black GC (2020) Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease. Eur J Hum Genet 28:576\u2013586. https:\/\/doi.org\/10.1038\/s41431-019-0548-5","journal-title":"Eur J Hum Genet"},{"key":"10135_CR39","doi-asserted-by":"publisher","first-page":"1466","DOI":"10.1016\/j.ophtha.2019.04.031","volume":"126","author":"AS Li","year":"2019","unstructured":"Li AS, MacKay D, Chen H, Rajagopal R, Apte RS (2019) Challenges to routine genetic testing for inherited retinal dystrophies. Ophthalmology 126:1466\u20131468. https:\/\/doi.org\/10.1016\/j.ophtha.2019.04.031","journal-title":"Ophthalmology"},{"key":"10135_CR40","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1080\/08164622.2021.1880863","volume":"104","author":"ML Hu","year":"2021","unstructured":"Hu ML, Edwards TL, O\u2019Hare F, Hickey DG, Wang J-H, Liu Z, Ayton LN (2021) Gene therapy for inherited retinal diseases: progress and possibilities. Clin Exp Optom 104:444\u2013454. https:\/\/doi.org\/10.1080\/08164622.2021.1880863","journal-title":"Clin Exp Optom"},{"key":"10135_CR41","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-02145-0","volume":"16","author":"BL Lam","year":"2021","unstructured":"Lam BL, Leroy BP, Black G, Ong T, Yoon D, Trzupek K (2021) Genetic testing and diagnosis of inherited retinal diseases. Orphanet J Rare Dis 16:514. https:\/\/doi.org\/10.1186\/s13023-021-02145-0","journal-title":"Orphanet J Rare Dis"},{"key":"10135_CR42","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-024-56121-2","author":"AC Britten-Jones","year":"2024","unstructured":"Britten-Jones AC, Schultz J, Mack HG, Kearns LS, Huq AJ, Ruddle JB, Mackey DA, Hewitt AW, Edwards TL, Ayton LN (2024) Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey. Sci Rep. https:\/\/doi.org\/10.1038\/s41598-024-56121-2","journal-title":"Sci Rep"},{"key":"10135_CR43","doi-asserted-by":"publisher","first-page":"6","DOI":"10.3928\/23258160-20201223-02","volume":"52","author":"AE Neiweem","year":"2021","unstructured":"Neiweem AE, Ciulla TA, Hariprasad SM (2021) Genetic testing prevalence, guidelines, and pitfalls in large, university-based medical systems. Ophthalmic Surg Lasers Imaging Retina 52:6\u201310. https:\/\/doi.org\/10.3928\/23258160-20201223-02","journal-title":"Ophthalmic Surg Lasers Imaging Retina"},{"key":"10135_CR44","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1002\/ajmg.c.31835","volume":"184","author":"K Branham","year":"2020","unstructured":"Branham K, Schlegel D, Fahim AT, Jayasundera KT (2020) Genetic testing for inherited retinal degenerations: triumphs and tribulations. Am J Med Genet C Semin Med Genet 184:571\u2013577. https:\/\/doi.org\/10.1002\/ajmg.c.31835","journal-title":"Am J Med Genet C Semin Med Genet"}],"container-title":["Documenta Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10633-026-10135-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10633-026-10135-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10633-026-10135-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T02:27:05Z","timestamp":1784946425000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10633-026-10135-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,25]]},"references-count":44,"alternative-id":["10135"],"URL":"https:\/\/doi.org\/10.1007\/s10633-026-10135-5","relation":{},"ISSN":["0012-4486","1573-2622"],"issn-type":[{"value":"0012-4486","type":"print"},{"value":"1573-2622","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,25]]},"assertion":[{"value":"7 April 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 July 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 July 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","label":"Conflict of interest","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The research protocol was reviewed and approved by the ethical committee of Ain Shams University Hospitals, Cairo, Egypt, and the Institutional Review Board of Research Ethics Committee at the Faculty of Medicine, Ain Shams University (FMASU R44\/2025).","order":2,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Informed consent was waived by the Research Ethics Committee of Ain Shams University in view of retrospective nature of the study.","order":3,"name":"Ethics","label":"Informed consent","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was conducted under the of Research Ethics Committee of Ain Shams University Institutional Review Board-approved protocol IRB (FMASU R44\/2025), and all the procedures were performed in accordance with the tenets of the Declaration of Helsinki.","order":4,"name":"Ethics","label":"Statement of human rights","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"No animals were used in the study, and no procedures were performed on animals. As such, ethical approval for animal research was not required.","order":5,"name":"Ethics","label":"Statement on the welfare of animals","group":{"name":"EthicsHeading","label":"Declarations"}}]}}