{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T22:24:15Z","timestamp":1781907855409,"version":"3.54.5"},"reference-count":76,"publisher":"MDPI AG","issue":"24","license":[{"start":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T00:00:00Z","timestamp":1671148800000},"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>Inherited retinal diseases can result from various genetic defects and are one of the leading causes for blindness in the working-age population. The present study aims to provide a comprehensive description of changes in retinal structure associated with phenotypic disease entities and underlying genetic mutations. Full macular spectral domain optical coherence tomography scans were obtained and manually segmented in 16 patients with retinitis pigmentosa, 7 patients with cone\u2013rod dystrophy, and 7 patients with Stargardt disease, as well as 23 age- and sex-matched controls without retinal disease, to assess retinal layer thicknesses. As indicated by generalized least squares models, all IRDs were associated with retinal thinning (p &lt; 0.001), especially of the outer nuclear layer (ONL, p &lt; 0.001). Except for the retinal nerve fiber layer, such thinning was associated with a reduced visual acuity (p &lt; 0.001). These advances in our understanding of ultrastructural retinal changes are important for the development of gene-, cell-, and optogenetic therapy. Longitudinal studies are warranted to describe the temporal component of those changes.<\/jats:p>","DOI":"10.3390\/ijms232416007","type":"journal-article","created":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T01:46:51Z","timestamp":1671155211000},"page":"16007","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations"],"prefix":"10.3390","volume":"23","author":[{"given":"Julia","family":"Gersch","sequence":"first","affiliation":[{"name":"University Eye Hospital, Hannover Medical School, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1796-3976","authenticated-orcid":false,"given":"Katerina","family":"Hufendiek","sequence":"additional","affiliation":[{"name":"University Eye Hospital, Hannover Medical School, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4598-3499","authenticated-orcid":false,"given":"Julien","family":"Delarocque","sequence":"additional","affiliation":[{"name":"Clinic for Horses, University Veterinary Medicine Hannover, Foundation, 30559 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Framme","sequence":"additional","affiliation":[{"name":"University Eye Hospital, Hannover Medical School, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6888-2992","authenticated-orcid":false,"given":"Christina","family":"Jacobsen","sequence":"additional","affiliation":[{"name":"University Eye Hospital, Hannover Medical School, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1508-0731","authenticated-orcid":false,"given":"Heidi","family":"St\u00f6hr","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5221-4631","authenticated-orcid":false,"given":"Ulrich","family":"Kellner","sequence":"additional","affiliation":[{"name":"Center for Rare Retinal Diseases, AugenZentrum Siegburg, MVZ Augen\u00e4rztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Europaplatz 3, 53721 Siegburg, Germany"},{"name":"RetinaScience, P.O. Box 301212, 53192 Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3996-7844","authenticated-orcid":false,"given":"Karsten","family":"Hufendiek","sequence":"additional","affiliation":[{"name":"University Eye Hospital, Hannover Medical School, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1055\/a-1388-7236","article-title":"Diagnosis of Inherited Retinal Diseases","volume":"238","author":"Birtel","year":"2021","journal-title":"Klin. Mon. F\u00fcr Augenheilkd."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1080\/13816810.2021.1913610","article-title":"Inherited Retinal Diseases Are the Most Common Cause of Blindness in the Working-Age Population in Australia","volume":"42","author":"Mukhtar","year":"2021","journal-title":"Ophthalmic Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"4015","DOI":"10.1136\/bmjopen-2013-004015","article-title":"A Comparison of the Causes of Blindness Certifications in England and Wales in Working Age Adults (16\u201364 Years), 1999\u20132000 with 2009\u20132010","volume":"4","author":"Liew","year":"2014","journal-title":"BMJ Open"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/j.ophtha.2015.12.009","article-title":"The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1","volume":"123","author":"Strauss","year":"2016","journal-title":"Ophthalmology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/1750-1172-1-40","article-title":"Retinitis Pigmentosa","volume":"1","author":"Hamel","year":"2006","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"4824","DOI":"10.1038\/s41598-018-22096-0","article-title":"Clinical and Genetic Characteristics of 251 Consecutive Patients with Macular and Cone\/Cone-Rod Dystrophy","volume":"8","author":"Birtel","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_7","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_8","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/j.ophtha.2014.08.012","article-title":"Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease","volume":"122","author":"Fujinami","year":"2015","journal-title":"Ophthalmology"},{"key":"ref_9","first-page":"101029","article-title":"Inherited Retinal Diseases: Linking Genes, Disease-Causing Variants, and Relevant Therapeutic Modalities","volume":"2021","author":"Schneider","year":"2021","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/gim.2015.15","article-title":"Navigating the Current Landscape of Clinical Genetic Testing for Inherited Retinal Dystrophies","volume":"17","author":"Lee","year":"2015","journal-title":"Genet. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"7274","DOI":"10.1167\/iovs.15-17371","article-title":"Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers","volume":"56","author":"Duncker","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1136\/bjophthalmol-2018-313278","article-title":"Progressive Cone and Cone-Rod Dystrophies: Clinical Features, Molecular Genetics and Prospects for Therapy","volume":"103","author":"Gill","year":"2019","journal-title":"Br. J. Ophthalmol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1126\/science.1957169","article-title":"Optical Coherence Tomography","volume":"254","author":"Huang","year":"1991","journal-title":"Science"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/j.1463-5224.2012.01045.x","article-title":"Optical Coherence Tomography for the Evaluation of Retinal and Optic Nerve Morphology in Animal Subjects: Practical Considerations","volume":"15","author":"McLellan","year":"2012","journal-title":"Vet. Ophthalmol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1007\/s00417-018-04229-3","article-title":"Impact of Segmentation Density on Spectral Domain Optical Coherence Tomography Assessment in Stargardt Disease","volume":"257","author":"Velaga","year":"2019","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"213","DOI":"10.4103\/0301-4738.97075","article-title":"Segmentation Error and Macular Thickness Measurements Obtained with Spectral-Domain Optical Coherence Tomography Devices in Neovascular Age-Related Macular Degeneration","volume":"61","author":"Kim","year":"2013","journal-title":"Indian J. Ophthalmol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"2493","DOI":"10.1364\/BOE.2.002493","article-title":"Automated Segmentation of Outer Retinal Layers in Macular OCT Images of Patients with Retinitis Pigmentosa","volume":"2","author":"Yang","year":"2011","journal-title":"Biomed. Opt. Express"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"3953","DOI":"10.1167\/iovs.08-2657","article-title":"A Comparison of Fundus Autofluorescence and Retinal Structure in Patients with Stargardt Disease","volume":"50","author":"Gomes","year":"2009","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"4662","DOI":"10.1167\/iovs.15-16955","article-title":"Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients with Stargardt Disease","volume":"56","author":"Park","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"49","DOI":"10.3109\/13816810.2011.628358","article-title":"Disruption in Bruch Membrane in Patients with Stargardt Disease","volume":"33","author":"Park","year":"2012","journal-title":"Ophthalmic Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1007\/s00417-015-3185-x","article-title":"Correlation of SD-OCT Findings and Visual Function in Patients with Retinitis Pigmentosa","volume":"254","author":"Triolo","year":"2016","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1877","DOI":"10.1097\/IAE.0b013e31829234e6","article-title":"Outer Retina Analysis by Optical Coherence Tomography in Cone-Rod Dystrophy Patients","volume":"33","author":"Lima","year":"2013","journal-title":"Retina"},{"key":"ref_23","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_24","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1167\/tvst.8.2.1","article-title":"Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease","volume":"8","author":"Tanna","year":"2019","journal-title":"Transl. Vis. Sci. Technol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1167\/iovs.04-0212","article-title":"Assessment of Central Visual Function in Stargardt\u2019s Disease\/Fundus Flavimaculatus with Ultrahigh-Resolution Optical Coherence Tomography","volume":"46","author":"Ergun","year":"2005","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1167\/tvst.8.6.26","article-title":"OCTA-Based Identification of Different Vascular Patterns in Stargardt Disease","volume":"8","author":"Arrigo","year":"2019","journal-title":"Transl. Vis. Sci. Technol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"8006","DOI":"10.1167\/iovs.11-7693","article-title":"Quantification of Peripapillary Sparing and Macular Involvement in Stargardt Disease (STGD1)","volume":"52","author":"Burke","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.jcrs.2004.01.014","article-title":"Visual Acuity Measurements","volume":"30","author":"Holladay","year":"2004","journal-title":"J. Cataract. Refract. Surg."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.exer.2012.06.006","article-title":"Layer-Specific Blood-Flow MRI of Retinitis Pigmentosa in RCS Rats","volume":"101","author":"Li","year":"2012","journal-title":"Exp. Eye Res."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"33921","DOI":"10.1038\/srep33921","article-title":"Increased Aqueous Flare Is Associated with Thickening of Inner Retinal Layers in Eyes with Retinitis Pigmentosa","volume":"6","author":"Nagasaka","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"e5785","DOI":"10.1097\/MD.0000000000005785","article-title":"Structural Analysis of Retinal Photoreceptor Ellipsoid Zone and Postreceptor Retinal Layer Associated with Visual Acuity in Patients with Retinitis Pigmentosa by Ganglion Cell Analysis Combined with OCT Imaging","volume":"95","author":"Liu","year":"2016","journal-title":"Medicine"},{"key":"ref_32","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_33","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1007\/s00417-018-4185-4","article-title":"Outer Retinal Layers as Predictors of Visual Acuity in Retinitis Pigmentosa: A Cross-Sectional Study","volume":"257","author":"Sousa","year":"2019","journal-title":"Graefe\u2019s Arch. Clin. Exp. Ophthalmol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"8425","DOI":"10.1167\/iovs.11-7780","article-title":"The Structure and Function of the Macula in Patients with Advanced Retinitis Pigmentosa","volume":"52","author":"Holder","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"8276140","DOI":"10.1155\/2019\/8276140","article-title":"Optical Coherence Tomography of Animal Models of Retinitis Pigmentosa: From Animal Studies to Clinical Applications","volume":"2019","author":"Nakazawa","year":"2019","journal-title":"Biomed. Res. Int."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1167\/iovs.07-1110","article-title":"Retinal Laminar Architecture in Human Retinitis Pigmentosa Caused by Rhodopsin Gene Mutations","volume":"49","author":"Aleman","year":"2008","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1016\/S0161-6420(82)34620-5","article-title":"Pathology of Retinitis Pigmentosa","volume":"89","author":"Gartner","year":"1982","journal-title":"Ophthalmology"},{"key":"ref_38","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_39","doi-asserted-by":"crossref","first-page":"e180","DOI":"10.1111\/aos.13577","article-title":"Ganglion Cell-Inner Plexiform Layer and Retinal Nerve Fibre Layer Changes within the Macula in Retinitis Pigmentosa: A Spectral Domain Optical Coherence Tomography Study","volume":"96","author":"Yoon","year":"2018","journal-title":"Acta Ophthalmol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"2328","DOI":"10.1167\/iovs.08-2936","article-title":"Thickness of Receptor and Post-Receptor Retinal Layers in Patients with Retinitis Pigmentosa Measured with Frequency-Domain Optical Coherence Tomography","volume":"50","author":"Hood","year":"2009","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.joco.2019.08.002","article-title":"Glial Proliferation and Atrophy: Two Poles of Optic Disc in Patients with Retinitis Pigmentosa","volume":"31","author":"Ilhan","year":"2019","journal-title":"J. Curr. Ophthalmol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"3597","DOI":"10.1007\/s00417-021-05233-w","article-title":"Analysis of Imaging Biomarkers and Retinal Nerve Fiber Layer Thickness in RPGR-Associated Retinitis Pigmentosa","volume":"259","author":"Birtel","year":"2021","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"473","DOI":"10.2147\/OPTH.S28938","article-title":"Cone Dysfunctions in Retinitis Pigmentosa with Retinal Nerve Fiber Layer Thickening","volume":"6","author":"Sobaci","year":"2012","journal-title":"Clin. Ophthalmol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1097\/IAE.0b013e31821a891a","article-title":"Evaluation of Retinal Nerve Fiber Layer Thickness in Retinitis Pigmentosa Patients Using Spectral-Domain OCT","volume":"32","author":"Anastasakis","year":"2012","journal-title":"Retina"},{"key":"ref_45","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_46","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1055\/a-1389-5416","article-title":"Linking the Presence of Macular Oedema to Structural and Functional Alterations in Retinitis Pigmentosa","volume":"238","author":"Friesacher","year":"2021","journal-title":"Klin. Mon. F\u00fcr Augenheilkd."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1002\/cne.24838","article-title":"Inner Retinal Preservation in the Photoinducible I307N Rhodopsin Mutant Mouse, a Model of Autosomal Dominant Retinitis Pigmentosa","volume":"528","author":"Stefanov","year":"2020","journal-title":"J. Comp. Neurol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"628","DOI":"10.5507\/bp.2013.017","article-title":"Optical Coherence Tomography in Progressive Cone Dystrophy","volume":"158","author":"Zahlava","year":"2014","journal-title":"Biomed. Pap. Med. Fac. Palacky Univ. Olomouc"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"19","DOI":"10.3341\/kjo.2013.27.1.19","article-title":"Morphologic Characteristics of the Outer Retina in Cone Dystrophy on Spectral-Domain Optical Coherence Tomography","volume":"27","author":"Cho","year":"2013","journal-title":"Korean J. Ophthalmol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"4240","DOI":"10.1167\/iovs.04-0737","article-title":"Pathological and Electrophysiological Features of a Canine Cone\u2013Rod Dystrophy in the Miniature Longhaired Dachshund","volume":"48","author":"Turney","year":"2007","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1007\/s00417-020-04992-2","article-title":"Thinner Temporal Peripapillary Retinal Nerve Fibre Layer in Stargardt Disease Detected by Optical Coherence Tomography","volume":"259","author":"Reich","year":"2021","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1111\/aos.13247","article-title":"Reduced Metabolic Function and Structural Alterations in Inherited Retinal Dystrophies: Investigating the Effect of Peripapillary Vessel Oxygen Saturation and Vascular Diameter on the Retinal Nerve Fibre Layer Thickness","volume":"95","author":"Bojinova","year":"2017","journal-title":"Acta Ophthalmol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"16576","DOI":"10.1038\/s41598-020-73645-5","article-title":"Analysis of Retinal Sublayer Thicknesses and Rates of Change in ABCA4-Associated Stargardt Disease","volume":"10","author":"Whitmore","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1136\/bjo.2010.189720","article-title":"Spectral-Domain OCT Peripapillary Retinal Nerve Fibre Layer Thickness Measurements in Patients with Stargardt Disease","volume":"95","author":"Genead","year":"2011","journal-title":"Br. J. Ophthalmol."},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"Hara, A., Nakazawa, M., Saito, M., and Suzuki, Y. (2020). The Qualitative Assessment of Optical Coherence Tomography and the Central Retinal Sensitivity in Patients with Retinitis Pigmentosa. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0232700"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"3248","DOI":"10.1177\/1120672121990579","article-title":"Outer Nuclear Layer Relevance in Visual Function Correlated to Quantitative Enface OCT Parameters in Stargardt Disease","volume":"31","author":"Mucciolo","year":"2021","journal-title":"Eur. J. Ophthalmol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1136\/bjophthalmol-2016-308823","article-title":"Stargardt Disease: Clinical Features, Molecular Genetics, Animal Models and Therapeutic Options","volume":"101","author":"Tanna","year":"2017","journal-title":"Br. J. Ophthalmol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1111\/ceo.13947","article-title":"Stargardt Disease: Multimodal Imaging: A Review","volume":"49","author":"Chen","year":"2021","journal-title":"Clin. Exp. Ophthalmol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.preteyeres.2017.10.004","article-title":"Molecular Genetics and Emerging Therapies for Retinitis Pigmentosa: Basic Research and Clinical Perspectives","volume":"63","author":"Dias","year":"2018","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"3759","DOI":"10.1167\/iovs.15-18313","article-title":"Bilateral Symmetry of Visual Function Loss in Cone\u2013Rod Dystrophies","volume":"57","author":"Falsini","year":"2016","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.ajo.2019.11.008","article-title":"Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry","volume":"211","author":"Georgiou","year":"2020","journal-title":"Am. J. Ophthalmol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1136\/bjo.63.2.90","article-title":"Bilateral Symmetry of Vision Disorders in Typical Retinitis Pigmentosa","volume":"63","author":"Massof","year":"1979","journal-title":"Br. J. Ophthalmol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.visres.2012.08.017","article-title":"Fundus Autofluorescence and Optical Coherence Tomography in Relation to Visual Function in Usher Syndrome Type 1 and 2","volume":"75","author":"Fakin","year":"2012","journal-title":"Vis. Res."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.ajo.2017.03.012","article-title":"Quantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR-Associated Retinopathy","volume":"178","author":"Tee","year":"2017","journal-title":"Am. J. Ophthalmol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1093\/hmg\/7.9.1517","article-title":"Mutations in a Novel Gene, VMD2, Encoding a Protein of Unknown Properties Cause Juvenile-Onset Vitelliform Macular Dystrophy (Best\u2019s Disease)","volume":"7","author":"Marquardt","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1167\/iovs.16-19936","article-title":"Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients from a Multicenter German Cohort\u2014Impact of Selected Deep Intronic Variants and Common SNPs","volume":"58","author":"Schulz","year":"2017","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_68","unstructured":"R Core Team (2022, August 17). R: A Language and Environment for Statistical Computing. Available online: https:\/\/www.r-project.org\/."},{"key":"ref_69","unstructured":"Pinheiro, J., and Bates, D. (2022, August 17). Nlme: Linear and Nonlinear Mixed Effects Models. Available online: https:\/\/cran.r-project.org\/web\/packages\/nlme\/index.html."},{"key":"ref_70","doi-asserted-by":"crossref","unstructured":"Pinheiro, J., and Bates, D. (2000). Mixed-Effects Models in S and S-PLUS, Springer.","DOI":"10.1007\/978-1-4419-0318-1"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1","DOI":"10.18637\/jss.v075.i06","article-title":"Robustlmm: An R Package for Robust Estimation of Linear Mixed-Effects Models","volume":"75","author":"Koller","year":"2016","journal-title":"J. Stat. Softw."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"2445","DOI":"10.21105\/joss.02445","article-title":"Extracting, Computing and Exploring the Parameters of Statistical Models Using R","volume":"5","author":"Patil","year":"2020","journal-title":"J. Open Source Softw."},{"key":"ref_73","first-page":"65","article-title":"A Simple Sequentially Rejective Multiple Test Procedure","volume":"6","author":"Holm","year":"1979","journal-title":"Scand. J. Stat."},{"key":"ref_74","unstructured":"Pohlert, T. (2022, August 17). PMCMRplus: Calculate Pairwise Multiple Comparisons of Mean Rank Sums Extended. Available online: https:\/\/cran.r-project.org\/web\/packages\/PMCMRplus\/index.html."},{"key":"ref_75","unstructured":"Lenth, R. (2022, August 17). Emmeans: Estimated Marginal Means, Aka Least-Squares Means. Available online: https:\/\/cran.r-project.org\/web\/packages\/emmeans\/index.html."},{"key":"ref_76","unstructured":"Hastie, T., Tibshirani, R., Narasimhan, B., and Chu, G. (2022, August 17). Impute: Imputation for Microarray Data. Available online: http:\/\/www.bioconductor.org\/packages\/release\/bioc\/html\/impute.html."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/24\/16007\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:42:25Z","timestamp":1760146945000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/24\/16007"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,16]]},"references-count":76,"journal-issue":{"issue":"24","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["ijms232416007"],"URL":"https:\/\/doi.org\/10.3390\/ijms232416007","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,16]]}}}