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Causative genetic mutations were found in <jats:italic>TYR<\/jats:italic> (23\/64, 35.9%), <jats:italic>OCA2<\/jats:italic> (19\/64, 29.7%), <jats:italic>TYRP1<\/jats:italic> (1\/64, 1.6%), <jats:italic>SLC45A2<\/jats:italic> (12\/64, 18.7%), <jats:italic>C10orf11<\/jats:italic> (1\/64, 1.6%), <jats:italic>HPS1<\/jats:italic> (3\/64, 4.7%), <jats:italic>HPS5<\/jats:italic> (1\/64, 1.5%), <jats:italic>HPS6<\/jats:italic> (1\/64, 1.6%) and <jats:italic>GPR143<\/jats:italic> (2\/64, 3.1%). Causative mutations remained undetermined for one patient (1.6%). Heterogeneity for hair and skin phenotype was noted across and within the different genotypes. Skin and hair hypopigmentation did not correlate with visual impairment. The diagnosis of unrecognized syndromic forms and of cases of ocular albinism in this prospective and comprehensive series of patients with albinism in a European setting is remarkable. Photoprotection was overall good but not optimal.<\/jats:p>","DOI":"10.1111\/pcmr.12651","type":"journal-article","created":{"date-parts":[[2017,10,4]],"date-time":"2017-10-04T14:16:37Z","timestamp":1507126597000},"page":"318-329","source":"Crossref","is-referenced-by-count":36,"title":["Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3226-5826","authenticated-orcid":false,"given":"Aur\u00e9lie","family":"Marti","sequence":"first","affiliation":[{"name":"Paediatric Dermatology Unit National Reference Center for Rare Skin Disorders H\u00f4pital Pellegrin\u2010Enfants Bordeaux University Hospitals  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eulalie","family":"Lasseaux","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory CHU de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khaled","family":"Ezzedine","sequence":"additional","affiliation":[{"name":"Department of Dermatology AP\u2010HP H\u00f4pital Henri\u2010Mondor  Cr\u00e9teil France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"L\u00e9aut\u00e9\u2010Labr\u00e8ze","sequence":"additional","affiliation":[{"name":"Paediatric Dermatology Unit National Reference Center for Rare Skin Disorders H\u00f4pital Pellegrin\u2010Enfants Bordeaux University Hospitals  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck","family":"Boralevi","sequence":"additional","affiliation":[{"name":"Paediatric Dermatology Unit National Reference Center for Rare Skin Disorders H\u00f4pital Pellegrin\u2010Enfants Bordeaux University Hospitals  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9ment","family":"Paya","sequence":"additional","affiliation":[{"name":"Ophthalmology Department CHU de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentine","family":"Coste","sequence":"additional","affiliation":[{"name":"Ophthalmology Department CHU de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Deroissart","sequence":"additional","affiliation":[{"name":"Institute of Public Health Epidemiology and Development \u201cISPED\u201d Bordeaux University  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Arveiler","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory CHU de Bordeaux  Bordeaux France"},{"name":"Unit\u00e9 INSERM U1211 Maladies Rares: G\u00e9n\u00e9tique et M\u00e9tabolisme  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0928-8608","authenticated-orcid":false,"given":"Alain","family":"Taieb","sequence":"additional","affiliation":[{"name":"Paediatric Dermatology Unit National Reference Center for Rare Skin Disorders H\u00f4pital Pellegrin\u2010Enfants Bordeaux University Hospitals  Bordeaux France"},{"name":"Unit\u00e9 INSERM 1035 BMGIC Immuno\u2010dermatology ATIP\u2010AVENIR University of Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4316-916X","authenticated-orcid":false,"given":"Fanny","family":"Morice\u2010Picard","sequence":"additional","affiliation":[{"name":"Paediatric Dermatology Unit National Reference Center for Rare Skin Disorders H\u00f4pital Pellegrin\u2010Enfants Bordeaux University Hospitals  Bordeaux France"},{"name":"Molecular Genetics Laboratory CHU de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,10,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(96)10031-7"},{"issue":"6","key":"e_1_2_7_3_1","first-page":"1145","article-title":"Mutation in and lack of expression of tyrosinase\u2010related protein\u20101 (TRP\u20101) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as \u201cOCA3\u201d","volume":"58","author":"Boissy R. 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