{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:48:40Z","timestamp":1787028520138,"version":"build-2736575974"},"reference-count":145,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T00:00:00Z","timestamp":1693958400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Purpose: Gene therapy actually seems to have promising results in the treatment of Leber Congenital Amaurosis and some different inherited retinal diseases (IRDs); the primary goal of this strategy is to change gene defects with a wild-type gene without defects in a DNA sequence to achieve partial recovery of the photoreceptor function and, consequently, partially restore lost retinal functions. This approach led to the introduction of a new drug (voretigene neparvovec-rzyl) for replacement of the RPE65 gene in patients affected by Leber Congenital Amaurosis (LCA); however, the treatment results are inconstant and with variable long-lasting effects due to a lack of correctly evaluating the anatomical and functional conditions of residual photoreceptors. These variabilities may also be related to host immunoreactive reactions towards the Adenovirus-associated vector. A broad spectrum of retinal dystrophies frequently generates doubt as to whether the disease or the patient is a good candidate for a successful gene treatment, because, very often, different diseases share similar genetic characteristics, causing an inconstant genotype\/phenotype correlation between clinical characteristics also within the same family. For example, mutations on the RPE65 gene cause Leber Congenital Amaurosis (LCA) but also some forms of Retinitis Pigmentosa (RP), Bardet Biedl Syndrome (BBS), Congenital Stationary Night Blindness (CSNB) and Usher syndrome (USH), with a very wide spectrum of clinical manifestations. These confusing elements are due to the different pathways in which the product protein (retinoid isomer-hydrolase) is involved and, consequently, the overlapping metabolism in retinal function. Considering this point and the cost of the drug (over USD one hundred thousand), it would be mandatory to follow guidelines or algorithms to assess the best-fitting disease and candidate patients to maximize the output. Unfortunately, at the moment, there are no suggestions regarding who to treat with gene therapy. Moreover, gene therapy might be helpful in other forms of inherited retinal dystrophies, with more frequent incidence of the disease and better functional conditions (actually, gene therapy is proposed only for patients with poor vision, considering possible side effects due to the treatment procedures), in which this approach leads to better function and, hopefully, visual restoration. But, in this view, who might be a disease candidate or patient to undergo gene therapy, in relationship to the onset of clinical trials for several different forms of IRD? Further, what is the gold standard for tests able to correctly select the patient? Our work aims to evaluate clinical considerations on instrumental morphofunctional tests to assess candidate subjects for treatment and correlate them with clinical and genetic defect analysis that, often, is not correspondent. We try to define which parameters are an essential and indispensable part of the clinical rationale to select patients with IRDs for gene therapy. This review will describe a series of models used to characterize retinal morphology and function from tests, such as optical coherence tomography (OCT) and electrophysiological evaluation (ERG), and its evaluation as a primary outcome in clinical trials. A secondary aim is to propose an ancillary clinical classification of IRDs and their accessibility based on gene therapy\u2019s current state of the art. Material and Methods: OCT, ERG, and visual field examinations were performed in different forms of IRDs, classified based on clinical and retinal conditions; compared to the gene defect classification, we utilized a diagnostic algorithm for the clinical classification based on morphofunctional information of the retina of patients, which could significantly improve diagnostic accuracy and, consequently, help the ophthalmologist to make a correct diagnosis to achieve optimal clinical results. These considerations are very helpful in selecting IRD patients who might respond to gene therapy with possible therapeutic success and filter out those in which treatment has a lower chance or no chance of positive results due to bad retinal conditions, avoiding time-consuming patient management with unsatisfactory results.<\/jats:p>","DOI":"10.3390\/ijms241813756","type":"journal-article","created":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T10:07:37Z","timestamp":1693994857000},"page":"13756","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections"],"prefix":"10.3390","volume":"24","author":[{"given":"Mariaelena","family":"Malvasi","sequence":"first","affiliation":[{"name":"Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6265-5921","authenticated-orcid":false,"given":"Lorenzo","family":"Casillo","sequence":"additional","affiliation":[{"name":"Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7475-5145","authenticated-orcid":false,"given":"Filippo","family":"Avogaro","sequence":"additional","affiliation":[{"name":"Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8582-4823","authenticated-orcid":false,"given":"Alessandro","family":"Abbouda","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Fiorini Hospital Terracina AUSL, 04019 Terracina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8363-5866","authenticated-orcid":false,"given":"Enzo Maria","family":"Vingolo","sequence":"additional","affiliation":[{"name":"Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00185 Rome, Italy"},{"name":"Department of Ophthalmology, Fiorini Hospital Terracina AUSL, 04019 Terracina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1932","DOI":"10.1056\/NEJMra1012354","article-title":"Genomics and the Eye","volume":"364","author":"Sheffield","year":"2011","journal-title":"N. Engl. J. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1007\/s00431-011-1615-2","article-title":"Retinal dystrophies and gene therapy","volume":"171","author":"Sundaram","year":"2012","journal-title":"Eur. J. Pediatr."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.preteyeres.2017.03.003","article-title":"Unravelling the genetics of inherited retinal dystrophies: Past, present and future","volume":"59","author":"Broadgate","year":"2017","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1097\/ICU.0000000000000185","article-title":"The current status of molecular diagnosis of inherited retinal dystrophies","volume":"26","author":"Chiang","year":"2015","journal-title":"Curr. Opin. Ophthalmol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/ejhg.2013.72","article-title":"Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies","volume":"22","author":"Kohl","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1097\/IAE.0000000000001341","article-title":"Clinical progress in inherited retinal degenerations: Gene therapy clinical trials and advances in genetic sequencing","volume":"37","author":"Hafler","year":"2017","journal-title":"Retina"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1007\/s00439-013-1381-5","article-title":"Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: Identification of a novel genotype-phenotype correlation and clinical refinements","volume":"133","author":"Wang","year":"2014","journal-title":"Hum. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Bjelo\u0161, M., Bu\u0161i\u0107, M., \u0106uri\u0107, A., \u0160ari\u0107, B., Bosnar, D., Markovi\u0107, L., Elabjer, B.K., and Rak, B. (2022). RPE65 c.353G>A, p.(Arg118Lys): A Novel Point Mutation Associated with Retinitis Pigmentosa and Macular Atrophy. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms231810513"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1080\/13816810490514261","article-title":"Leber congenital amaurosis: A genetic paradigm","volume":"25","author":"Allikmets","year":"2004","journal-title":"Ophthalmic Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1136\/bjophthalmol-2016-309975","article-title":"Leber congenital amaurosis\/early-onset severe retinal dystrophy: Clinical features, molecular genetics and therapeutic interventions","volume":"101","author":"Kumaran","year":"2017","journal-title":"Br. J. Ophthalmol."},{"key":"ref_11","unstructured":"O\u2019Neal, T.B., and Luther, E.E. (2023). StatPearls, StatPearls Publishing."},{"key":"ref_12","first-page":"384","article-title":"Review and update: Current treatment trends for patients with retinitis pigmentosa","volume":"80","author":"Shintani","year":"2009","journal-title":"Optom. J. Am. Optom. Assoc."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1097\/WCO.0b013e3283218807","article-title":"Update on Usher syndrome","volume":"22","author":"Saihan","year":"2009","journal-title":"Curr. Opin. Neurol."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Kim, A.H., Liu, P.-K., Chang, Y.-H., Kang, E.Y.-C., Wang, H.-H., Chen, N., Tseng, Y.-J., Seo, G.H., Lee, H., and Liu, L. (2022). Congenital Stationary Night Blindness: Clinical and Genetic Features. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms232314965"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1136\/jmg.34.2.92","article-title":"Bardet-Biedl syndrome: A molecular and phenotypic study of 18 families","volume":"34","author":"Beales","year":"1997","journal-title":"J. Med. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"3052","DOI":"10.1167\/iovs.05-0111","article-title":"Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles","volume":"46","author":"Zernant","year":"2005","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"5684","DOI":"10.1167\/iovs.07-0207","article-title":"An Assessment of the Apex Microarray Technology in Genotyping Patients with Leber Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy","volume":"48","author":"Henderson","year":"2007","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"5653","DOI":"10.1167\/iovs.07-0007","article-title":"Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray","volume":"48","author":"Vallespin","year":"2007","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1167\/iovs.05-0848","article-title":"Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis","volume":"47","author":"Yzer","year":"2006","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"E1709","DOI":"10.1002\/humu.21336","article-title":"Genetic screening of LCA in Belgium: Predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes","volume":"31","author":"Coppieters","year":"2010","journal-title":"Hum. Mutat."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.ajhg.2009.06.022","article-title":"Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine","volume":"85","author":"Tucker","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1038\/gim.2011.51","article-title":"Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis","volume":"14","author":"Coppieters","year":"2012","journal-title":"Genet Med."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1186\/s12967-020-02258-3","article-title":"Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: Hidden recessive inheritance and potential oligogenic variants","volume":"18","author":"Pozo","year":"2020","journal-title":"J. Transl. Med."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"16139","DOI":"10.1073\/pnas.1308243110","article-title":"Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene","volume":"110","author":"Nishiguchi","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/s00439-015-1631-9","article-title":"Clinical sequencing: Is WGS the better WES?","volume":"135","author":"Meienberg","year":"2016","journal-title":"Hum. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1016\/j.ophtha.2016.01.009","article-title":"Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease","volume":"123","author":"Ellingford","year":"2016","journal-title":"Ophthalmology"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1056\/NEJMoa1414221","article-title":"Long-Term Effect of Gene Therapy on Leber\u2019s Congenital Amaurosis","volume":"372","author":"Bainbridge","year":"2015","journal-title":"N. Engl. J. Med."},{"key":"ref_28","first-page":"9","article-title":"Gene therapy for leber congenital amaurosis caused by RPE65 mutations: Safety and efficacy in 15 children and adults followed up to 3 years","volume":"130","author":"Jacobson","year":"2012","journal-title":"JAMA Ophthalmol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1016\/S0140-6736(17)31868-8","article-title":"Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: A randomised, controlled, open-label, phase 3 trial","volume":"390","author":"Russell","year":"2017","journal-title":"Lancet"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1016\/j.ophtha.2016.03.003","article-title":"Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood\u2013Onset Retinal Dystrophy","volume":"123","author":"Weleber","year":"2016","journal-title":"Ophthalmology"},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Huang, C.-H., Yang, C.-M., Yang, C.-H., Hou, Y.-C., and Chen, T.-C. (2021). Leber\u2019s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations. Genes, 12.","DOI":"10.3390\/genes12081261"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1016\/S0140-6736(09)61836-5","article-title":"Age-dependent effects of RPE65 gene therapy for Leber\u2019s congenital amaurosis: A phase 1 dose-escalation trial","volume":"374","author":"Maguire","year":"2009","journal-title":"Lancet"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"E517","DOI":"10.1073\/pnas.1218933110","article-title":"Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement","volume":"110","author":"Cideciyan","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1016\/j.ophtha.2019.06.017","article-title":"Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation\u2013Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials","volume":"126","author":"Maguire","year":"2019","journal-title":"Ophthalmology"},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Deutsche Ophthalmologische Gesellschaft (DOG), Berufsverband der Augen\u00e4rzte Deutschlands e. V. (BVA), and Retinologische Gesellschaft e. V. (RG) (2019). Statement of the German Society of Ophthalmology (DOG), the German Retina Society (RG) and the Professional Association of German Ophthalmologists (BVA) on the therapeutic use of voretigene neparvovec-rzyl (Luxturna\u2122) in ophthalmology: Situation January 2019. Ophthalmologe, 116, 524\u2013533.","DOI":"10.1007\/s00347-019-0885-3"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"5792","DOI":"10.1167\/iovs.17-22473","article-title":"Superior Retinal Gene Transfer and Biodistribution Profile of Subretinal Versus Intravitreal Delivery of AAV8 in Nonhuman Primates","volume":"58","author":"Seitz","year":"2017","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1910","DOI":"10.1167\/iovs.17-22494","article-title":"Humoral Immune Response after Intravitreal but Not after Subretinal AAV8 in Primates and Patients","volume":"59","author":"Reichel","year":"2018","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1089\/hgtb.2016.086","article-title":"Evaluation of an Optimized Injection System for Retinal Gene Therapy in Human Patients","volume":"27","author":"Fischer","year":"2016","journal-title":"Hum. Gene Ther. Methods"},{"key":"ref_39","first-page":"120ra115","article-title":"AAV2 gene therapy readministration in three adults with congenital blindness","volume":"4","author":"Bennett","year":"2012","journal-title":"Sci. Transl."},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Irigoyen, C., Amenabar Alonso, A., Sanchez-Molina, J., Rodr\u00edguez-Hidalgo, M., Lara-L\u00f3pez, A., and Ruiz-Ederra, J. (2022). Subretinal Injection Techniques for Retinal Disease: A Review. J. Clin. Med., 11.","DOI":"10.3390\/jcm11164717"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1874","DOI":"10.1038\/s41433-022-02262-5","article-title":"Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy","volume":"37","author":"Jalil","year":"2022","journal-title":"Eye"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.omtm.2021.05.011","article-title":"Caratterizzazione della risposta immunitaria cellulare alla terapia genica subretinica AAV nella retina murina","volume":"22","author":"Chandler","year":"2021","journal-title":"Metodi. Mol. Ther. Clin. Dev."},{"key":"ref_43","unstructured":"Agarwal, A., and Gass, J. (2012). Gass\u2019 Atlas of Macular Diseases, Elsevier Saunders. [5th ed.]."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1007\/978-3-319-17121-0_23","article-title":"Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes","volume":"854","author":"Jacobson","year":"2016","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Paul, L., Kumar, S., Singh, S., and Jain, T. (2020). Multiple retinal astrocytic hamartomas in siblings with lebers congenital amaurosis: A case series and review of literature. BMC Ophthalmol., 20.","DOI":"10.1186\/s12886-020-01646-z"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1167\/iovs.63.2.13","article-title":"RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study","volume":"63","author":"Testa","year":"2022","journal-title":"Investig. Opthalmo. Vis. Sci."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.preteyeres.2018.03.005","article-title":"Non-syndromic retinitis pigmentosa","volume":"66","author":"Verbakel","year":"2018","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1080\/13816810.2020.1780619","article-title":"Optical coherence tomography in the evaluation of retinitis pigmentosa","volume":"41","author":"Oh","year":"2020","journal-title":"Ophthalmic Genet."},{"key":"ref_49","unstructured":"Jimenez-Davila, H.J., Procopio, R.A., and Klufas, M.A. (2023, August 23). A Review of Retinitis Pigmentosa. Available online: https:\/\/www.reviewofophthalmology.com\/article\/a-review-of-retinitis-pigmentosa."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1167\/iovs.62.15.26","article-title":"Comparative Natural History of Visual Function from Patients with Biallelic Variants in BBS1 and BBS10","volume":"62","author":"Pechhacker","year":"2021","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"635216","DOI":"10.3389\/fcell.2021.635216","article-title":"Ocular Characteristics of Patients with Bardet\u2013Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort","volume":"9","author":"Meng","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_52","doi-asserted-by":"crossref","unstructured":"Nasser, F., Kohl, S., Kurtenbach, A., Kempf, M., Biskup, S., Zuleger, T., Haack, T.B., Weisschuh, N., Stingl, K., and Zrenner, E. (2022). Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort. Genes, 13.","DOI":"10.3390\/genes13071218"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"7924","DOI":"10.1167\/iovs.11-8313","article-title":"Retinal Disease Course in Usher Syndrome 1B Due to MYO7A Mutations","volume":"52","author":"Jacobson","year":"2011","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_54","first-page":"175","article-title":"Histopathology of the human retina in retinitis pigmentosa","volume":"17","author":"Milam","year":"1998","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1016\/S0161-6420(98)96009-2","article-title":"Patterns of visual field progression in patients with retinitis pigmentosa","volume":"105","author":"Grover","year":"1998","journal-title":"Ophthalmology"},{"key":"ref_56","doi-asserted-by":"crossref","unstructured":"Fletcher, E.L., Jobling, A.I., Vessey, K.A., Luu, C., Guymer, R.H., and Baird, P.N. (2011). Animal Models of Retinal Disease, Elsevier.","DOI":"10.1016\/B978-0-12-384878-9.00006-6"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"145","DOI":"10.6061\/clinics\/2012(02)09","article-title":"Visual acuity and retinal function in patients with Bardet-Biedl syndrome","volume":"67","author":"Berezovsky","year":"2012","journal-title":"Clinics"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"3235","DOI":"10.1016\/j.visres.2004.09.019","article-title":"From candelas to photoisomerizations in the mouse eye by rhodopsin bleaching in situ and the light-rearing dependence of the major components of the mouse ERG","volume":"44","author":"Lyubarsky","year":"2004","journal-title":"Vis. Res."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/j.ymthe.2019.08.013","article-title":"Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy","volume":"28","author":"Gardiner","year":"2020","journal-title":"Mol. Ther."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1016\/j.ymthe.2020.11.029","article-title":"Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy","volume":"29","author":"Maguire","year":"2021","journal-title":"Mol. Ther."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"15112","DOI":"10.1073\/pnas.0807027105","article-title":"Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics","volume":"105","author":"Cideciyan","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1517\/21678707.2015.1030393","article-title":"Improvement in vision: A new goal for treatment of hereditary retinal degenerations","volume":"3","author":"Jacobson","year":"2015","journal-title":"Expert Opin. Orphan Drugs"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"6177","DOI":"10.1073\/pnas.0500646102","article-title":"Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success","volume":"102","author":"Jacobson","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"2240","DOI":"10.1056\/NEJMoa0802315","article-title":"Safety and Efficacy of Gene Transfer for Leber\u2019s Congenital Amaurosis","volume":"358","author":"Maguire","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/S0140-6736(16)30371-3","article-title":"Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: A follow-on phase 1 trial","volume":"388","author":"Bennett","year":"2016","journal-title":"Lancet"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1038\/mt.2009.277","article-title":"Gene Therapy for Leber\u2019s Congenital Amaurosis is Safe and Effective Through 1.5 Years after Vector Administration","volume":"18","author":"Simonelli","year":"2010","journal-title":"Mol. Ther."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1056\/NEJMoa0802268","article-title":"Effect of Gene Therapy on Visual Function in Leber\u2019s Congenital Amaurosis","volume":"358","author":"Bainbridge","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1167\/iovs.61.5.30","article-title":"Treatment Potential for LCA5-Associated Leber Congenital Amaurosis","volume":"61","author":"Uyhazi","year":"2020","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_69","unstructured":"FDA (2018). Approves Spark Therapeutics\u2019 LUXTURNA\u2122 (Voretigene Neparvovec-rzyl), a One-time Gene Therapy for Patients with Confirmed Biallelic RPE65 Mutation-Associated Retinal Dystrophy, Spark Therapeutics, Inc."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1038\/ng1394","article-title":"Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy","volume":"36","author":"Janecke","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_71","unstructured":"Lorenz, B., and Preising, M. (2023, August 23). Leber Congenital Amaurosis. Available online: https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?lng=EN&Expert=65."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1186\/s13023-020-1304-1","article-title":"The effect of human gene therapy for RPE65-associated Leber\u2019s congenital amaurosis on visual function: A systematic review and meta-analysis","volume":"15","author":"Wang","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1167\/iovs.15-17117","article-title":"N-Acetylcysteine Amide Protects Against Oxidative Stress-Induced Microparticle Release from Human Retinal Pigment Epithelial Cells","volume":"57","author":"Carver","year":"2016","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_74","doi-asserted-by":"crossref","unstructured":"Tanabu, R., Sato, K., Monai, N., Yamauchi, K., Gonome, T., Xie, Y., Takahashi, S., Ishiguro, S.-I., and Nakazawa, M. (2019). The findings of optical coherence tomography of retinal degeneration in relation to the morphological and electroretinographic features in RPE65\u2212\/\u2212 mice. PLoS ONE, 14.","DOI":"10.1371\/journal.pone.0210439"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s10633-008-9155-4","article-title":"ISCEV Standard for full-field clinical electroretinography (2008 update)","volume":"118","author":"Marmor","year":"2009","journal-title":"Doc. Ophthalmol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.preteyeres.2010.04.002","article-title":"Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy","volume":"29","author":"Cideciyan","year":"2010","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.21037\/atm-20-4726","article-title":"Gene therapy for inherited retinal diseases","volume":"9","author":"Nuzbrokh","year":"2021","journal-title":"Ann. Transl. Med."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1038\/s41591-020-0763-1","article-title":"Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR","volume":"26","author":"Xue","year":"2020","journal-title":"Nat. Med."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/81555","article-title":"Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa","volume":"26","author":"Gal","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1007\/s00439-016-1637-y","article-title":"Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: Results of a phase I trial","volume":"135","author":"Ghazi","year":"2016","journal-title":"Hum. Genet."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"250","DOI":"10.2174\/138920211795860125","article-title":"Clinical and Rehabilitative Management of Retinitis Pigmentosa: Up-to-Date","volume":"12","author":"Romano","year":"2011","journal-title":"Curr. Genom."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"a017111","DOI":"10.1101\/cshperspect.a017111","article-title":"Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations","volume":"5","author":"Sahel","year":"2014","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.preteyeres.2017.08.004","article-title":"The mechanism of cone cell death in Retinitis Pigmentosa","volume":"62","author":"Campochiaro","year":"2018","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.preteyeres.2015.06.005","article-title":"Pharmacological approaches to retinitis pigmentosa: A laboratory perspective","volume":"48","author":"Guadagni","year":"2015","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1007\/164_2016_91","article-title":"Hereditary Retinal Dystrophy","volume":"242","author":"Hohman","year":"2017","journal-title":"Handb. Exp. Pharmacol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/978-1-4939-8669-9_1","article-title":"Identification and Analysis of Genes Associated with Inherited Retinal Diseases","volume":"1834","author":"Khan","year":"2019","journal-title":"Methods Mol. Biol."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"238","DOI":"10.2174\/138920211795860107","article-title":"Retinitis pigmentosa: Genes and disease mechanisms","volume":"12","author":"Ferrari","year":"2011","journal-title":"Curr. Genom."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/0039-6257(88)90085-9","article-title":"Retinitis pigmentosa","volume":"33","author":"Pagon","year":"1988","journal-title":"Surv. Ophthalmol."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.ajo.2017.01.014","article-title":"Prevalence, Age at Diagnosis, Mortality, and Cause of Death in Retinitis Pigmentosa in Korea\u2014A Nationwide Population-based Study","volume":"176","author":"Na","year":"2017","journal-title":"Am. J. Ophthalmol."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"e649","DOI":"10.1111\/j.1755-3768.2012.02396.x","article-title":"Prevalence of retinitis pigmentosa in India: The Central India Eye and Medical Study","volume":"90","author":"Nangia","year":"2012","journal-title":"Acta Ophthalmol."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"7417","DOI":"10.1167\/iovs.14-15013","article-title":"A Comparison of Progressive Loss of the Ellipsoid Zone (EZ) Band in Autosomal Dominant and X-Linked Retinitis Pigmentosa","volume":"55","author":"Cai","year":"2014","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.heares.2019.02.007","article-title":"Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina","volume":"375","author":"Mathur","year":"2019","journal-title":"Hear. Res."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"620","DOI":"10.4103\/0301-4738.194328","article-title":"Bardet\u2013Biedl syndrome: Genetics, molecular pathophysiology, and disease management","volume":"64","author":"Priya","year":"2016","journal-title":"Indian J. Ophthalmol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1159\/000445063","article-title":"Optical Coherence Tomographic Analysis of Retina in Retinitis Pigmentosa Patients","volume":"56","author":"Liu","year":"2016","journal-title":"Ophthalmic Res."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1167\/iovs.10-5799","article-title":"The Transition Zone between Healthy and Diseased Retina in Patients with Retinitis Pigmentosa","volume":"52","author":"Hood","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"21","DOI":"10.4137\/OED.S13617","article-title":"Dorzolamide Chlorhydrate versus Acetazolamide in the Management of Chronic Macular Edema in Patients with Retinitis Pigmentosa: Description of Three Case Reports","volume":"6","author":"Pacella","year":"2014","journal-title":"Ophthalmol. Eye Dis."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1097\/IAE.0000000000000010","article-title":"Prevalence and spatial distribution of cystoid spaces in retinitis pigmentosa: Investigation with spectral domain optical coherence tomography","volume":"34","author":"Makiyama","year":"2014","journal-title":"Retina"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1136\/bjophthalmol-2016-309376","article-title":"Retinitis pigmentosa-associated cystoid macular oedema: Pathogenesis and avenues of intervention","volume":"101","author":"Strong","year":"2017","journal-title":"Br. J. Ophthalmol."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"4759","DOI":"10.1167\/iovs.07-0453","article-title":"Inner Retinal Abnormalities in X-linked Retinitis Pigmentosa with RPGR Mutations","volume":"48","author":"Aleman","year":"2007","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"1871","DOI":"10.1097\/IAE.0b013e318296b12f","article-title":"Outer retinal tubulation in degenerative retinal disorders","volume":"33","author":"Goldberg","year":"2013","journal-title":"Retina"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"435","DOI":"10.2147\/OPTH.S58164","article-title":"Intraretinal hyperreflective foci on spectral-domain optical coherence tomographic images of patients with retinitis pigmentosa","volume":"8","author":"Kuroda","year":"2014","journal-title":"Clin. Ophthalmol."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1001\/jamaophthalmol.2013.4160","article-title":"Spectral-Domain Optical Coherence Tomography Measures of Outer Segment Layer Progression in Patients with X-Linked Retinitis Pigmentosa","volume":"131","author":"Birch","year":"2013","journal-title":"JAMA Ophthalmol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1002\/humu.20499","article-title":"Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking","volume":"28","author":"Zeitz","year":"2007","journal-title":"Hum. Mutat."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.preteyeres.2014.09.001","article-title":"Congenital stationary night blindness: An analysis and update of genotype\u2013phenotype correlations and pathogenic mechanisms","volume":"45","author":"Zeitz","year":"2015","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1111\/aos.14693","article-title":"Congenital stationary night blindness: An update and review of the disease spectrum in Saudi Arabia","volume":"99","author":"Almutairi","year":"2020","journal-title":"Acta Ophthalmol."},{"key":"ref_106","doi-asserted-by":"crossref","unstructured":"Kim, H.-M., Joo, K., Han, J., and Woo, S.-J. (2021). Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients. Genes, 12.","DOI":"10.3390\/genes12060789"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/0002-9394(54)90011-2","article-title":"Electroretinography in Cases of Night Blindness","volume":"38","author":"Riggs","year":"1954","journal-title":"Am. J. Ophthalmol."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1159\/000301211","article-title":"Analysis of the human electroretinogram","volume":"123","author":"Schubert","year":"1952","journal-title":"Ophthalmologica"},{"key":"ref_109","unstructured":"Sadda, S.R., Schachat, A.P., Wilkinson, C.P., Hinton, D.R., Wiedemann, P., Freund, K.B., and Sarraf, D. (2022). Ryan\u2019s Retina, Elsevier. [7th ed.]."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"6229","DOI":"10.1093\/hmg\/ddv341","article-title":"Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness","volume":"24","author":"Scalabrino","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"3107","DOI":"10.1016\/j.celrep.2019.05.056","article-title":"Presynaptic Expression of LRIT3 Transsynaptically Organizes the Postsynaptic Glutamate Signaling Complex Containing TRPM1","volume":"27","author":"Hasan","year":"2019","journal-title":"Cell Rep."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"2072","DOI":"10.1016\/j.ophtha.2013.03.002","article-title":"Genotype and Phenotype of 101 Dutch Patients with Congenital Stationary Night Blindness","volume":"120","author":"Bijveld","year":"2013","journal-title":"Ophthalmology"},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"P105","DOI":"10.1016\/j.ophtha.2017.10.008","article-title":"Amblyopia Preferred Practice Pattern","volume":"125","author":"Wallace","year":"2017","journal-title":"Ophthalmology"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1111\/cxo.12657","article-title":"Optical treatment of amblyopia: A systematic review and meta-analysis","volume":"101","author":"Asper","year":"2018","journal-title":"Clin. Exp. Optom."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"a017285","DOI":"10.1101\/cshperspect.a017285","article-title":"The Status of RPE65 Gene Therapy Trials: Safety and Efficacy","volume":"5","author":"Pierce","year":"2015","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"ref_116","unstructured":"US Food & Drug Administration (2023, August 23). FDA Approves Novel Gene Therapy to Treat Patients with a Rare form of Inherited Vision Loss, Available online: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-novel-gene-therapy-treat-patients-rare-form-inherited-vision-loss."},{"key":"ref_117","doi-asserted-by":"crossref","unstructured":"Su\u00e1rez-Gonz\u00e1lez, J., Seidel, V., Andr\u00e9s-Zayas, C., Izquierdo, E., and Bu\u00f1o, I. (2021). Novel biallelic variant in BBS9 causative of Bardet\u2013Biedl syndrome: Expanding the spectrum of disease-causing genetic alterations. BMC Med. Genom., 14.","DOI":"10.1186\/s12920-021-00943-w"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/humu.21204","article-title":"Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes","volume":"31","author":"Philp","year":"2010","journal-title":"Hum. Mutat."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/ejhg.2012.115","article-title":"Bardet\u2013Biedl syndrome","volume":"21","author":"Forsythe","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"2283","DOI":"10.1093\/hmg\/ddw096","article-title":"Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)","volume":"25","author":"Heon","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1038\/ncb2560","article-title":"The BBSome controls IFT assembly and turnaround in cilia","volume":"14","author":"Wei","year":"2012","journal-title":"Nat. Cell Biol."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"11855","DOI":"10.1038\/srep11855","article-title":"BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors","volume":"5","author":"Xu","year":"2015","journal-title":"Sci. Rep."},{"key":"ref_123","doi-asserted-by":"crossref","unstructured":"Hey, C.A.B., Larsen, L.J., T\u00fcmer, Z., Br\u00f8ndum-Nielsen, K., Gr\u00f8nskov, K., Hjortsh\u00f8j, T.D., and M\u00f8ller, L.B. (2021). BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22031345"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/j.ajo.2015.05.007","article-title":"Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients with Molecularly Confirmed Bardet-Biedl Syndrome","volume":"160","author":"Scheidecker","year":"2015","journal-title":"Am. J. Ophthalmol."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"dmm049473","DOI":"10.1242\/dmm.049473","article-title":"Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model","volume":"15","author":"Mayer","year":"2022","journal-title":"Dis. Model. Mech."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"5919","DOI":"10.1167\/iovs.09-3548","article-title":"Genotyping Microarray for CSNB-Associated Genes","volume":"50","author":"Zeitz","year":"2009","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_127","unstructured":"Weihbrecht, K., Goar, W.A., Pak, T., Garrison, J.E., DeLuca, A.P., Stone, E.M., Scheetz, T.E., and Sheffield, V.C. (2017). Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. Med. Res. Arch., 5."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1038\/ng1771","article-title":"BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus","volume":"38","author":"Stoetzel","year":"2006","journal-title":"Nat. Genet."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1038\/374060a0","article-title":"Defective myosin VIIA gene responsible for Usher syndrome type 1B","volume":"374","author":"Weil","year":"1995","journal-title":"Nature"},{"key":"ref_130","first-page":"417217","article-title":"An Update on the Genetics of Usher Syndrome","volume":"2011","author":"Aller","year":"2011","journal-title":"J. Ophthalmol."},{"key":"ref_131","doi-asserted-by":"crossref","unstructured":"Yang, J., Liu, X., Zhao, Y., Adamian, M., Pawlyk, B., Sun, X., McMillan, D.R., Liberman, M.C., and Li, T. (2010). Ablation of Whirlin Long Isoform Disrupts the USH2 Protein Complex and Causes Vision and Hearing Loss. PLoS Genet., 6.","DOI":"10.1371\/journal.pgen.1000955"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1038\/sj.gt.3302897","article-title":"Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B","volume":"14","author":"Hashimoto","year":"2007","journal-title":"Gene Ther."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1242\/jcs.115.2.445","article-title":"Actin-based motor properties of native myosin VIIa","volume":"115","author":"Udovichenko","year":"2002","journal-title":"J. Cell Sci."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1007\/s00439-004-1227-2","article-title":"Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population","volume":"116","author":"Ouyang","year":"2005","journal-title":"Hum. Genet."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/dneu.20771","article-title":"Deafness and retinal degeneration in a novel USH1C knock-in mouse model","volume":"70","author":"Lentz","year":"2010","journal-title":"Dev. Neurobiol."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"2405","DOI":"10.1093\/hmg\/ddn140","article-title":"Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism","volume":"17","author":"Jacobson","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"1886","DOI":"10.1167\/iovs.08-3122","article-title":"Disease Boundaries in the Retina of Patients with Usher Syndrome Caused by MYO7A Gene Mutations","volume":"50","author":"Jacobson","year":"2009","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/ng.519","article-title":"AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis","volume":"42","author":"Louie","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.visres.2007.08.015","article-title":"Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy","volume":"48","author":"Williams","year":"2008","journal-title":"Vis. Res."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1002\/cne.902920402","article-title":"Human photoreceptor topography","volume":"292","author":"Curcio","year":"1990","journal-title":"J. Comp. Neurol."},{"key":"ref_141","first-page":"450","article-title":"Retinal damage by light in rats","volume":"5","author":"Noell","year":"1966","journal-title":"Investig. Ophthalmol."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"2560","DOI":"10.1093\/hmg\/ddr155","article-title":"The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65","volume":"20","author":"Lopes","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"6481","DOI":"10.1073\/pnas.1130432100","article-title":"Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein","volume":"100","author":"Gibbs","year":"2003","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1159\/000351681","article-title":"Spectral Domain Optical Coherence Tomography Findings in Patients with Retinitis Pigmentosa","volume":"50","author":"Triolo","year":"2013","journal-title":"Ophthalmic Res."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1167\/iovs.12-10149","article-title":"Correlations between Spectral-Domain OCT Measurements and Visual Acuity in Cystoid Macular Edema Associated with Retinitis Pigmentosa","volume":"54","author":"Kim","year":"2013","journal-title":"Investig. Opthalmol. Vis. Sci."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/18\/13756\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:46:13Z","timestamp":1760129173000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/18\/13756"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,6]]},"references-count":145,"journal-issue":{"issue":"18","published-online":{"date-parts":[[2023,9]]}},"alternative-id":["ijms241813756"],"URL":"https:\/\/doi.org\/10.3390\/ijms241813756","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,6]]}}}