{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T15:02:36Z","timestamp":1793804556092,"version":"4.6.1"},"reference-count":13,"publisher":"Public Library of Science (PLoS)","issue":"1","license":[{"start":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T00:00:00Z","timestamp":1705449600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec001\">\n<jats:title>Purpose<\/jats:title>\n<jats:p>To determine if visual maturation continues beyond the first decade of life in children with albinism and whether this is related to albinism type, presence of nystagmus, eye muscle surgery or refractive errors.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec002\">\n<jats:title>Design<\/jats:title>\n<jats:p>Case series based on retrospective study of children with confirmed genetic diagnosis of albinism.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec003\">\n<jats:title>Methods<\/jats:title>\n<jats:p>Clinical data were obtained from medical files of children examined during school years, including albinism type, visual acuity, eye muscle surgery, nystagmus, and others on different visits (Visit 1: ages 7\u20139; Visit 2: ages: 10\u201312; Visit 3: ages 13\u201316; Visit 4: ages &gt;16).<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec004\">\n<jats:title>Results<\/jats:title>\n<jats:p>Seventy-five children with albinism were included in the study. Patients were divided into different groups according to the albinism type including OCA1A: 17; OCA1B: 28; OCA2: 26; HPS: 3; OCA4: 1. Follow-up ranged from 3\u201313 years. Progressive visual acuity improvement was seen in all three main groups. T-test paired samples showed a statistically significant improvement when comparing vision from Visit 1 and Visit 3 in both OCA1A and OCA2 groups, with a mean vision improvement of 2 lines. There was no correlation between visual improvement and refractive error, eye muscle surgery or nystagmus.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec005\">\n<jats:title>Conclusion<\/jats:title>\n<jats:p>An improved visual performance was seen in a large percentage of children with albinism during the second decade of life. The reason for this late improvement in vision is not clear but may be related to late foveal maturation or improvement in nystagmus with time. This information is useful for clinicians of these patients and when counseling parents.<\/jats:p>\n<\/jats:sec>","DOI":"10.1371\/journal.pone.0296744","type":"journal-article","created":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T13:27:05Z","timestamp":1705498025000},"page":"e0296744","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":7,"title":["Visual acuity improvement in children with albinism beyond the first decade of life"],"prefix":"10.1371","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7747-3568","authenticated-orcid":true,"given":"Claudia","family":"Yahalom","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Navarrete","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atara","family":"Juster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayan","family":"Galbinur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anat","family":"Blumenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Hendler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2024,1,17]]},"reference":[{"issue":"3","key":"pone.0296744.ref001","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1080\/13816810.2021.1881979","article-title":"Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism","volume":"42","author":"L Kessel","year":"2021","journal-title":"Ophthalmic Genet"},{"key":"pone.0296744.ref002","doi-asserted-by":"crossref","unstructured":"Ada Rosenmann, Idit Bejarano-Achache, Dalia Eli, Genia Maftsir LM-M and A, Blumenfeld. Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families. Prenat Diagn. 2009;29:939\u201346.","DOI":"10.1002\/pd.2317"},{"issue":"7","key":"pone.0296744.ref003","first-page":"648","article-title":"Clinical and genetic aspects of albinism","volume":"46","author":"B Arveiler","year":"2017","journal-title":"Press Medicale"},{"issue":"8","key":"pone.0296744.ref004","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1007\/s00439-021-02285-0","article-title":"Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism","volume":"140","author":"AE Volk","year":"2021","journal-title":"Hum Genet"},{"issue":"1","key":"pone.0296744.ref005","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-2-43","article-title":"Oculocutaneous albinism","volume":"2","author":"K Gr\u00f8nskov","year":"2007","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"pone.0296744.ref006","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1002\/humu.22315","article-title":"DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics","volume":"34","author":"DR Simeonov","year":"2013","journal-title":"Hum Mutat"},{"issue":"12","key":"pone.0296744.ref007","doi-asserted-by":"crossref","first-page":"1953","DOI":"10.1016\/j.ophtha.2018.08.003","article-title":"The Phenotypic Spectrum of Albinism","volume":"125","author":"CC Kruijt","year":"2018","journal-title":"Ophthalmology"},{"key":"pone.0296744.ref008","first-page":"1095","article-title":"Vision in albinism","volume":"94","author":"CG Summers","year":"1996","journal-title":"Trans Am Ophthalmol Soc"},{"issue":"2","key":"pone.0296744.ref009","doi-asserted-by":"crossref","first-page":"81","DOI":"10.3928\/01913913-20110628-02","article-title":"Change in visual acuity in albinism in the early school years","volume":"49","author":"JM Dijkstal","year":"2012","journal-title":"J Pediatr Ophthalmol Strabismus"},{"issue":"14","key":"pone.0296744.ref010","doi-asserted-by":"crossref","first-page":"2325","DOI":"10.1016\/S0042-6989(98)00280-6","article-title":"Development of spatial and temporal vision during childhood","volume":"39","author":"D Ellemberg","year":"1999","journal-title":"Vision Res"},{"issue":"3","key":"pone.0296744.ref011","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1002\/dev.20055","article-title":"Multiple sensitive periods in human visual development: Evidence from visually deprived children","volume":"46","author":"TL Lewis","year":"2005","journal-title":"Dev Psychobiol"},{"issue":"5","key":"pone.0296744.ref012","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1016\/S0161-6420(13)31250-0","article-title":"G KR. Ophthalmic features of minimal pigment oculocutaneous albinism","volume":"101","author":"C. Summers","year":"1994","journal-title":"Ophthalmology"},{"issue":"5","key":"pone.0296744.ref013","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1034\/j.1600-0420.2000.078005553.x","article-title":"Visually impaired Swedish children. The 1980 cohort study\u2014A 19-year ophthalmological follow-up","volume":"78","author":"J Blohme","year":"2000","journal-title":"Acta Ophthalmol Scand"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0296744","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T13:27:13Z","timestamp":1705498033000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0296744"}},"subtitle":[],"editor":[{"given":"PremNandhini","family":"Satgunam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2024,1,17]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,1,17]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0296744","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,17]]}}}