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Patients with OCA have hypopigmentation and ocular manifestations such as photophobia, amblyopia, and nystagmus. Hermansky\u2013Pudlak syndrome (HPS), the most common syndromic OCA, is characterized by the additional features of a bleeding tendency and other critical systemic comorbidities such as pulmonary fibrosis and immunodeficiency. NGS\u2010based gene analyses have identified several new causative genes for OCA and have detected rare subtypes of OCA with high accuracy including Japanese patients. In our survey of 190 Japanese OCA patients\/families, OCA4 is the most common subtype (25.3%) followed by OCA1 (20.0%), HPS1 (14.7%), and OCA2 (8.4%). Similar to the A481T variant in\n                    <jats:italic>OCA2<\/jats:italic>\n                    , which is associated with a mild form of OCA2 and skin color variation, the c.\u2010492_489delAATG variant located in the promoter region of\n                    <jats:italic>SLC45A2<\/jats:italic>\n                    has been uniquely identified in Japanese patients with a mild form of OCA4. Further, rare OCA subtypes, including OCA3, HPS2, HPS3, HPS4, HPS5, HPS6, and HPS9, have also been identified in Japanese patients. The clinical characteristics and underlying molecular mechanisms of each subtype of OCA are concisely summarized in this review.\n                  <\/jats:p>","DOI":"10.1111\/pcmr.12927","type":"journal-article","created":{"date-parts":[[2020,9,24]],"date-time":"2020-09-24T08:02:01Z","timestamp":1600934521000},"page":"190-203","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Current landscape of Oculocutaneous Albinism in Japan"],"prefix":"10.1111","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7366-3233","authenticated-orcid":false,"given":"Ken","family":"Okamura","sequence":"first","affiliation":[{"name":"Department of Dermatology Faculty of Medicine Yamagata University Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4669-9721","authenticated-orcid":false,"given":"Tamio","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Faculty of Medicine Yamagata University Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2012.10.016"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-09-671636"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng576"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12386"},{"key":"e_1_2_8_6_1","doi-asserted-by":"crossref","first-page":"quiz 742\u2013733","DOI":"10.1016\/j.jaci.2007.08.039","article-title":"Novel insights from adaptor protein 3 complex deficiency","volume":"120","author":"Badolato R.","year":"2007","journal-title":"The Journal of Allergy and Clinical Immunology"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-01-404350"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.7.1091"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/07853890.2019.1587498"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.04543"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12425"},{"issue":"6","key":"e_1_2_8_12_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 \"OCA3\"","volume":"58","author":"Boissy R. 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