Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4

Abstract To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Dutch OCA4 patients from the Bartiméus Diag...

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Autores principales:	C. C. Kruijt, N. E. Schalij-Delfos, G. C. de Wit, R. J. Florijn, M. M. van Genderen
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/c0eceddb3d1d42a9bc2f8adaa5d3d096
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spelling	oai:doaj.org-article:c0eceddb3d1d42a9bc2f8adaa5d3d0962021-12-02T17:50:42ZEvident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 410.1038/s41598-021-90896-y2045-2322https://doaj.org/article/c0eceddb3d1d42a9bc2f8adaa5d3d0962021-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-90896-yhttps://doaj.org/toc/2045-2322Abstract To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Dutch OCA4 patients from the Bartiméus Diagnostic Center for complex visual disorders. 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 SLC45A2 gene, c.310C > T; (p.Pro104Ser), and c.1368 + 3_1368 + 9del; (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.C. C. KruijtN. E. Schalij-DelfosG. C. de WitR. J. FlorijnM. M. van GenderenNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q C. C. Kruijt N. E. Schalij-Delfos G. C. de Wit R. J. Florijn M. M. van Genderen Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4
description	Abstract To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Dutch OCA4 patients from the Bartiméus Diagnostic Center for complex visual disorders. 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 SLC45A2 gene, c.310C > T; (p.Pro104Ser), and c.1368 + 3_1368 + 9del; (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.
format	article
author	C. C. Kruijt N. E. Schalij-Delfos G. C. de Wit R. J. Florijn M. M. van Genderen
author_facet	C. C. Kruijt N. E. Schalij-Delfos G. C. de Wit R. J. Florijn M. M. van Genderen
author_sort	C. C. Kruijt
title	Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4
title_short	Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4
title_full	Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4
title_fullStr	Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4
title_full_unstemmed	Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4
title_sort	evident hypopigmentation without other ocular deficits in dutch patients with oculocutaneous albinism type 4
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/c0eceddb3d1d42a9bc2f8adaa5d3d096
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Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4

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