{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T23:55:37Z","timestamp":1793663737287,"version":"4.5.1"},"reference-count":66,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","award":["ANR-21-CE17\\u20130041\\u201301"],"award-info":[{"award-number":["ANR-21-CE17\\u20130041\\u201301"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010457","name":"Centre Hospitalier Universitaire de Bordeaux","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010457","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006251","name":"University of Bordeaux","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006251","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","em-consulte.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["La Presse M\u00e9dicale"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.lpm.2025.104332","type":"journal-article","created":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T16:43:46Z","timestamp":1764175426000},"page":"104332","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Recent advances in albinism"],"prefix":"10.1016","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4316-916X","authenticated-orcid":false,"given":"Fanny","family":"Morice-Picard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Modibo","family":"Diallo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Arveiler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.lpm.2025.104332_bib0001","doi-asserted-by":"crossref","DOI":"10.1016\/j.preteyeres.2022.101091","article-title":"The retinal pigmentation pathway in human albinism: not so black and white","volume":"91","author":"Bakker","year":"2022","journal-title":"Prog Retin Eye Res"},{"key":"10.1016\/j.lpm.2025.104332_bib0002","series-title":"Clinical ophthalmic genetics and genomics","first-page":"393","article-title":"Albinism","author":"Lasseaux","year":"2022"},{"issue":"7","key":"10.1016\/j.lpm.2025.104332_bib0003","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1016\/j.jid.2019.12.010","article-title":"Albinism: an underdiagnosed condition","volume":"140","author":"Arveiler","year":"2020","journal-title":"J Invest Dermatol"},{"issue":"4","key":"10.1016\/j.lpm.2025.104332_bib0004","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1111\/pcmr.12688","article-title":"Molecular characterization of a series of 990 index patients with albinism","volume":"31","author":"Lasseaux","year":"2018","journal-title":"Pigment Cell Melanoma Res"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0005","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1111\/pcmr.12173","article-title":"High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene","volume":"27","author":"Morice-Picard","year":"2014","journal-title":"Pigment Cell Melanoma Res"},{"issue":"10","key":"10.1016\/j.lpm.2025.104332_bib0011","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1167\/iovs.64.10.14","article-title":"Determining a worldwide prevalence of oculocutaneous albinism: a systematic review","volume":"64","author":"Kromberg","year":"2023","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"6","key":"10.1016\/j.lpm.2025.104332_bib0012","doi-asserted-by":"crossref","first-page":"1752","DOI":"10.1016\/j.jid.2021.11.014","article-title":"Spectrum analysis of albinism genes in a large cohort of Chinese index patients","volume":"142","author":"Wei","year":"2022","journal-title":"J Invest Dermatol"},{"issue":"2","key":"10.1016\/j.lpm.2025.104332_bib0013","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1111\/pcmr.12927","article-title":"Current landscape of oculocutaneous albinism in Japan","volume":"34","author":"Okamura","year":"2021","journal-title":"Pigment Cell Melanoma Res"},{"key":"10.1016\/j.lpm.2025.104332_bib0015","doi-asserted-by":"crossref","first-page":"877","DOI":"10.4102\/ajod.v11i0.877","article-title":"Oculocutaneous albinism in southern Africa: historical background, genetic, clinical and psychosocial issues","volume":"11","author":"Kromberg","year":"2022","journal-title":"Afr J Disabil"},{"issue":"6","key":"10.1016\/j.lpm.2025.104332_bib0016","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1111\/pcmr.13175","article-title":"Genotypic spectrum of albinism in Mali","volume":"37","author":"Diallo","year":"2024","journal-title":"Pigment Cell Melanoma Res"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0006","first-page":"55","article-title":"Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity","volume":"22","author":"Jr","year":"1970","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.lpm.2025.104332_bib0007","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1111\/j.1469-1809.1960.tb01734.x","article-title":"Albinism in Northern Ireland","volume":"24","author":"Froggatt","year":"1960","journal-title":"Ann Hum Genet"},{"issue":"3","key":"10.1016\/j.lpm.2025.104332_bib0008","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1167\/iovs.08-2639","article-title":"Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism","volume":"50","author":"Gr\u00f8nskov","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"12","key":"10.1016\/j.lpm.2025.104332_bib0009","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":"Kruijt","year":"2018","journal-title":"Ophthalmology"},{"issue":"4","key":"10.1016\/j.lpm.2025.104332_bib0010","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1111\/j.1399-0004.1987.tb02801.x","article-title":"Albinism, or the NOACH syndrome","volume":"31","author":"Van Dorp","year":"1987","journal-title":"Clin Genet"},{"issue":"3","key":"10.1016\/j.lpm.2025.104332_bib0014","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1002\/humu.23968","article-title":"Hermansky-Pudlak syndrome: mutation update","volume":"41","author":"Huizing","year":"2020","journal-title":"Hum Mutat"},{"key":"10.1016\/j.lpm.2025.104332_bib0017","first-page":"5","article-title":"What can we learn from the distribution of the 2.7kb deletion mutation of the OCA2 gene in oculocutaneous albinism type 2 (OCA2) in Cameroon and in Sub-Saharan countries?","volume":"1","author":"Aquaron","year":"2019","journal-title":"JSM Dermatolog Clin Res"},{"issue":"16","key":"10.1016\/j.lpm.2025.104332_bib0018","doi-asserted-by":"crossref","first-page":"8657","DOI":"10.3390\/ijms25168657","article-title":"Functional characterization of splice variants in the diagnosis of albinism","volume":"25","author":"Diallo","year":"2024","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.lpm.2025.104332_bib0019","article-title":"A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1","volume":"935","author":"Diallo","year":"2024","journal-title":"Gene"},{"issue":"5","key":"10.1016\/j.lpm.2025.104332_bib0020","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1111\/pcmr.13123","article-title":"Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism","volume":"37","author":"Michaud","year":"2024","journal-title":"Pigment Cell Melanoma Res"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0021","doi-asserted-by":"crossref","DOI":"10.1111\/pcmr.13212","article-title":"Curation of OCA2 variants of uncertain significance from Chinese oculocutaneous albinism patients based on multiplex assays","volume":"38","author":"Yang","year":"2025","journal-title":"Pigment Cell Melanoma Res"},{"issue":"9","key":"10.1016\/j.lpm.2025.104332_bib0022","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1136\/bjophthalmol-2018-312729","article-title":"Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene","volume":"103","author":"Monferm\u00e9","year":"2019","journal-title":"Br J Ophthalmol"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0023","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1038\/s41598-018-37272-5","article-title":"A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1","volume":"9","author":"Gr\u00f8nskov","year":"2019","journal-title":"Sci Rep"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0024","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1038\/s41525-021-00275-9","article-title":"Evidence that the Ser192Tyr\/Arg402Gln in cis tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)","volume":"7","author":"Lin","year":"2022","journal-title":"NPJ Genom Med"},{"issue":"7","key":"10.1016\/j.lpm.2025.104332_bib0025","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1016\/j.ajhg.2023.05.012","article-title":"Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B","volume":"110","author":"Loftus","year":"2023","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0026","doi-asserted-by":"crossref","first-page":"3939","DOI":"10.1038\/s41467-022-31392-3","article-title":"The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism","volume":"13","author":"Michaud","year":"2022","journal-title":"Nat Commun"},{"issue":"12","key":"10.1016\/j.lpm.2025.104332_bib0027","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1136\/jmg-2022-109088","article-title":"A multilayered approach to the analysis of genetic data from individuals with suspected albinism","volume":"60","author":"Sergouniotis","year":"2023","journal-title":"J Med Genet"},{"issue":"8","key":"10.1016\/j.lpm.2025.104332_bib0028","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1136\/bjophthalmol-2020-318192","article-title":"Abnormal foveal morphology in carriers of oculocutaneous albinism","volume":"107","author":"Kuht","year":"2023","journal-title":"Br J Ophthalmol"},{"issue":"6","key":"10.1016\/j.lpm.2025.104332_bib0029","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1080\/13816810.2022.2121841","article-title":"Foveal hypoplasia in parents of patients with albinism","volume":"43","author":"Lejoyeux","year":"2022","journal-title":"Ophthalmic Genet"},{"issue":"3","key":"10.1016\/j.lpm.2025.104332_bib0030","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/pcmr.12743","article-title":"A curated gene list for expanding the horizons of pigmentation biology","volume":"32","author":"Baxter","year":"2019","journal-title":"Pigment Cell Melanoma Res"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0031","doi-asserted-by":"crossref","first-page":"8436","DOI":"10.1038\/s41467-024-52763-y","article-title":"The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism","volume":"15","author":"Green","year":"2024","journal-title":"Nat Commun"},{"issue":"3","key":"10.1016\/j.lpm.2025.104332_bib0032","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1038\/s41436-020-00997-8","article-title":"Dopachrome tautomerase variants in patients with oculocutaneous albinism","volume":"23","author":"Pennamen","year":"2021","journal-title":"Genet Med"},{"issue":"10","key":"10.1016\/j.lpm.2025.104332_bib0033","doi-asserted-by":"crossref","first-page":"1613","DOI":"10.1038\/s41436-020-0867-5","article-title":"BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome","volume":"22","author":"Pennamen","year":"2020","journal-title":"Genet Med"},{"issue":"8","key":"10.1016\/j.lpm.2025.104332_bib0034","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":"Volk","year":"2021","journal-title":"Hum Genet"},{"issue":"10","key":"10.1016\/j.lpm.2025.104332_bib0035","doi-asserted-by":"crossref","first-page":"2630","DOI":"10.3390\/cells10102630","article-title":"A novel likely pathogenic variant in the BLOC1S5 gene associated with Hermansky-Pudlak Syndrome type 11 and an overview of Human BLOC-1 deficiencies","volume":"10","author":"Boeckelmann","year":"2021","journal-title":"Cells"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0036","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s00439-022-02489-y","article-title":"PMEL is mutated in oculocutaneous albinism","volume":"142","author":"AlAbdi","year":"2023","journal-title":"Hum Genet"},{"key":"10.1016\/j.lpm.2025.104332_bib0037","article-title":"A melanosomal two-pore sodium channel regulates pigmentation","volume":"6","author":"Bellono","year":"2016","journal-title":"Sci Rep"},{"issue":"20","key":"10.1016\/j.lpm.2025.104332_bib0038","doi-asserted-by":"crossref","first-page":"5622","DOI":"10.1073\/pnas.1600108113","article-title":"TPC2 controls pigmentation by regulating melanosome pH and size","volume":"113","author":"Ambrosio","year":"2016","journal-title":"Proc Natl Acad Sci USA"},{"issue":"7","key":"10.1016\/j.lpm.2025.104332_bib0039","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1038\/ng.160","article-title":"Two newly identified genetic determinants of pigmentation in Europeans","volume":"40","author":"Sulem","year":"2008","journal-title":"Nat Genet"},{"issue":"41","key":"10.1016\/j.lpm.2025.104332_bib0040","doi-asserted-by":"crossref","first-page":"E8595","DOI":"10.1073\/pnas.1705739114","article-title":"TPC2 polymorphisms associated with a hair pigmentation phenotype in humans result in gain of channel function by independent mechanisms","volume":"114","author":"Chao","year":"2017","journal-title":"Proc Natl Acad Sci USA"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0041","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1009236","article-title":"Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect","volume":"17","author":"B\u00f6ck","year":"2021","journal-title":"PLoS Genet"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0042","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1038\/s41467-023-35786-9","article-title":"A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P2 and causes lysosome acidification and hypopigmentation","volume":"14","author":"Wang","year":"2023","journal-title":"Nat Commun"},{"issue":"3","key":"10.1016\/j.lpm.2025.104332_bib0043","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1038\/s41431-024-01779-5","article-title":"A patient with TPCN2-related hypopigmentation and ocular phenotype","volume":"33","author":"Courdier","year":"2025","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0044","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1167\/iovs.63.1.19","article-title":"The phenotypic and mutational spectrum of the FHONDA syndrome and oculocutaneous albinism: similarities and differences","volume":"63","author":"Kruijt","year":"2022","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"6","key":"10.1016\/j.lpm.2025.104332_bib0045","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1016\/j.ophtha.2022.02.010","article-title":"Genotypic and phenotypic spectrum of foveal hypoplasia: a multicenter study","volume":"129","author":"Kuht","year":"2022","journal-title":"Ophthalmology"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0046","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-021-90896-y","article-title":"Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4","volume":"11","author":"Kruijt","year":"2021","journal-title":"Sci Rep"},{"issue":"12","key":"10.1016\/j.lpm.2025.104332_bib0047","doi-asserted-by":"crossref","first-page":"2198","DOI":"10.3390\/genes13122198","article-title":"Oculo-cutaneous albinism type 4 (OCA4): phenotype-genotype correlation","volume":"13","author":"Moreno-Artero","year":"2022","journal-title":"Genes (Basel)"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0048","doi-asserted-by":"crossref","first-page":"7572","DOI":"10.1038\/s41598-024-57969-0","article-title":"Clinical and mutational characteristics of oculocutaneous albinism type 7","volume":"14","author":"Kruijt","year":"2024","journal-title":"Sci Rep"},{"issue":"24","key":"10.1016\/j.lpm.2025.104332_bib0049","doi-asserted-by":"crossref","first-page":"2687","DOI":"10.1091\/mbc.E20-03-0200","article-title":"SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation","volume":"31","author":"Le","year":"2020","journal-title":"Mol Biol Cell"},{"issue":"12","key":"10.1016\/j.lpm.2025.104332_bib0050","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2022.102669","article-title":"OCA7 is a melanosome membrane protein that defines pigmentation by regulating early stages of melanosome biogenesis","volume":"298","author":"Beyers","year":"2022","journal-title":"J Biol Chem"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0053","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.neuron.2022.10.025","article-title":"CyclinD2-mediated regulation of neurogenic output from the retinal ciliary margin is perturbed in albinism","volume":"111","author":"Slavi","year":"2022","journal-title":"Neuron"},{"issue":"7","key":"10.1016\/j.lpm.2025.104332_bib0051","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.3390\/genes13071164","article-title":"The dct-\/- mouse model to unravel retinogenesis misregulation in patients with albinism","volume":"13","author":"Tingaud-Sequeira","year":"2022","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.lpm.2025.104332_bib0052","doi-asserted-by":"crossref","DOI":"10.3389\/fphar.2021.602206","article-title":"Biophysical compatibility of a heterotrimeric tyrosinase-TYRP1-TYRP2 metalloenzyme complex","volume":"12","author":"Lavinda","year":"2021","journal-title":"Front Pharmacol"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0054","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s12914-018-0144-8","article-title":"Children with albinism in African regions: their rights to 'being' and 'doing'","volume":"18","author":"Franklin","year":"2018","journal-title":"BMC Int Health Hum Rights"},{"issue":"4","key":"10.1016\/j.lpm.2025.104332_bib0055","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1590\/abd1806-4841.20153498","article-title":"Quality of life in patients with oculocutaneous albinism","volume":"90","author":"Maia","year":"2015","journal-title":"An Bras Dermatol"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0056","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/s12916-024-03251-z","article-title":"The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism","volume":"22","author":"Fournier","year":"2024","journal-title":"BMC Med"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0057","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1186\/s13023-018-0894-3","article-title":"Burden of albinism: development and validation of a burden assessment tool","volume":"13","author":"Morice-Picard","year":"2018","journal-title":"Orphanet J Rare Dis"},{"issue":"7","key":"10.1016\/j.lpm.2025.104332_bib0058","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1111\/jdv.17275","article-title":"Management of albinism: french guidelines for diagnosis and care","volume":"35","author":"Moreno-Artero","year":"2021","journal-title":"J Eur Acad Dermatol Venereol"},{"issue":"4","key":"10.1016\/j.lpm.2025.104332_bib0059","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/j.annder.2021.03.005","article-title":"Development and co-construction of a therapeutic patient education program for albinism","volume":"148","author":"Dufresne","year":"2021","journal-title":"Ann Dermatol Venereol"},{"issue":"3","key":"10.1016\/j.lpm.2025.104332_bib0060","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.ophtha.2022.10.006","article-title":"Surgical treatments to improve visual acuity in infantile nystagmus syndrome: a report by the American Academy of Ophthalmology","volume":"130","author":"Chang","year":"2023","journal-title":"Ophthalmology."},{"issue":"8","key":"10.1016\/j.lpm.2025.104332_bib0061","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1111\/ceo.12325","article-title":"Does levodopa improve vision in albinism? Results of a randomized, controlled clinical trial","volume":"42","author":"Summers","year":"2014","journal-title":"Clin Exp Ophthalmol"},{"issue":"1","key":"10.1016\/j.lpm.2025.104332_bib0062","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-023-44373-3","article-title":"Human equivalent doses of l-DOPA rescues retinal morphology and visual function in a murine model of albinism","volume":"13","author":"Sanchez-Bretano","year":"2023","journal-title":"Sci Rep"},{"key":"10.1016\/j.lpm.2025.104332_bib0063","doi-asserted-by":"crossref","first-page":"43","DOI":"10.2147\/TACG.S113310","article-title":"Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)","volume":"10","author":"Das","year":"2017","journal-title":"Appl Clin Genet"},{"issue":"10","key":"10.1016\/j.lpm.2025.104332_bib0064","doi-asserted-by":"crossref","first-page":"3914","DOI":"10.1172\/JCI59372","article-title":"Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism","volume":"121","author":"Onojafe","year":"2011","journal-title":"J Clin Invest"},{"issue":"2","key":"10.1016\/j.lpm.2025.104332_bib0065","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.124387","article-title":"One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B","volume":"4","author":"Adams","year":"2019","journal-title":"JCI Insight"},{"issue":"5","key":"10.1016\/j.lpm.2025.104332_bib0066","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1016\/j.jid.2018.10.033","article-title":"The molecular basis of chemical chaperone therapy for oculocutaneous albinism type 1A","volume":"139","author":"Teramae","year":"2019","journal-title":"J Invest Dermatol"}],"container-title":["La Presse M\u00e9dicale"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S075549822500065X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S075549822500065X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T08:12:13Z","timestamp":1788682333000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S075549822500065X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":66,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["S075549822500065X"],"URL":"https:\/\/doi.org\/10.1016\/j.lpm.2025.104332","relation":{},"ISSN":["0755-4982"],"issn-type":[{"value":"0755-4982","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recent advances in albinism","name":"articletitle","label":"Article Title"},{"value":"La Presse M\u00e9dicale","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.lpm.2025.104332","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier Masson SAS. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"104332"}}