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All patients had severely reduced pigmentation of skin, hair, and eyes with iris transillumination over 360 degrees. Three unrelated OCA4 patients had normal VA, no nystagmus, no foveal hypoplasia, and no misrouting of the visual pathways. Six patients had poor visual acuity (0.6 to 1.0 logMAR), nystagmus, severe foveal hypoplasia and misrouting. We found two novel variants in the\n                    <jats:italic>SLC45A2<\/jats:italic>\n                    gene, c.310C\u2009&gt;\u2009T; (p.Pro104Ser), and c.1368\u2009+\u20093_1368\u2009+\u20099del; (p.?). OCA4 patients of this Dutch cohort all had hypopigmentation of skin, hair, and iris translucency. However, patients were either severely affected with regard to visual acuity, foveal hypoplasia, and misrouting, or visually not affected at all. We describe for the first time OCA4 patients with an evident lack of pigmentation, but normal visual acuity, normal foveal development and absence of misrouting. This implies that absence of melanin does not invariably lead to foveal hypoplasia and abnormal routing of the visual pathways.\n                  <\/jats:p>","DOI":"10.1038\/s41598-021-90896-y","type":"journal-article","created":{"date-parts":[[2021,6,2]],"date-time":"2021-06-02T06:20:36Z","timestamp":1622614836000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4"],"prefix":"10.1038","volume":"11","author":[{"given":"C. C.","family":"Kruijt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. E.","family":"Schalij-Delfos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. 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