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Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.
Kruijt CC, Schalij-Delfos NE, de Wit GC, Florijn RJ, van Genderen MM. Kruijt CC, et al. Sci Rep. 2021 Jun 2;11(1):11572. doi: 10.1038/s41598-021-90896-y. Sci Rep. 2021. PMID: 34078970 Free PMC article.
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 Dutc …
To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pig …
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.
Oki R, Yamada K, Nakano S, Kimoto K, Yamamoto K, Kondo H, Kubota T. Oki R, et al. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1008-1016. doi: 10.1167/iovs.16-20612. Invest Ophthalmol Vis Sci. 2017. PMID: 28192564
Mutational search was performed for the SLC45A2 gene responsible for oculocutaneous albinism type 4 (OCA4). RESULTS: All 16 patients exhibited hypopigmentation of their hair and/or iris. ...
Mutational search was performed for the SLC45A2 gene responsible for oculocutaneous albinism type 4 (OCA4). RESU …
Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case.
He D, Liu X, Yao T, Hu J, Zheng X, Tang L, Fan X. He D, et al. Mol Genet Genomic Med. 2024 Feb;12(2):e2385. doi: 10.1002/mgg3.2385. Mol Genet Genomic Med. 2024. PMID: 38337174 Free PMC article.
BACKGROUND: Oculocutaneous albinism type 4 (OCA4) is a rare autosomal recessive disorder characterized by a reduction of pigmentation in skin, hair, and eyes, and OCA4 is mainly seen in the SLC45A2 gene variants. ...
BACKGROUND: Oculocutaneous albinism type 4 (OCA4) is a rare autosomal recessive disorder characterized by a redu …
Septo-optic dysplasia presenting with nystagmus, pseudo-disc edema, and fovea hypoplasia.
Sather Ιιι R, Thompson D, Ihinger J, Montezuma SR. Sather Ιιι R, et al. Ophthalmic Genet. 2022 Aug;43(4):522-529. doi: 10.1080/13816810.2022.2039720. Epub 2022 Feb 27. Ophthalmic Genet. 2022. PMID: 35225164
Genetic testing identified one pathogenic variant in the SLC45A2, indicating carrier status for oculocutaneous albinism type 4 (OCA4). Flash Visual Evoked Potentials (VEPs) were consistent with chiasm dysfunction or hypoplasia rather than the chiasmal …
Genetic testing identified one pathogenic variant in the SLC45A2, indicating carrier status for oculocutaneous albinism typ …
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.
Fernandez BA, Green JS, Bursey F, Barrett B, MacMillan A, McColl S, Fernandez S, Rahman P, Mahoney K, Pereira SL, Scherer SW, Boycott KM, Woods MO; FORGE Canada Consortium. Fernandez BA, et al. BMC Med Genet. 2012 Nov 21;13:111. doi: 10.1186/1471-2350-13-111. BMC Med Genet. 2012. PMID: 23171239 Free PMC article.
Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. Oculocutaneous albinism type 4 (OCA4) is caused by autosomal recessive mutations in SLC45A2. ...
Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. O …