Clinical and mutational characteristics of oculocutaneous albinism type 7

Autor: C. C. Kruijt, G. C. de Wit, H. M. van Minderhout, N. E. Schalij-Delfos, M. M. van Genderen

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-6 (2024)

Abstract The purpose of this paper is to expand on the phenotype of oculocutaneous albinism type 7 (OCA7). We described three patients with OCA7: two from a consanguineous family of Kurdish origin and one patient of Dutch origin. We compared them wit

Externí odkaz: https://doaj.org/article/da192aa1619a40f5a03595ba203a33ce

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

Autor: M. M. van Genderen, G. C. de Wit, Ralph J. Florijn, C. C. Kruijt, Nicoline E. Schalij-Delfos

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Scientific Reports, 11(1). NATURE PORTFOLIO
Scientific Reports
Scientific reports, 11(1):11572. Nature Publishing Group

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 Du

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75ff87db75218d7b67270c4cb6efef65
https://hdl.handle.net/1887/3213213

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

Autor: J Schuil, Han G. Brunner, L. I. van den Born, F. N. Boonstra, B. Van Den Helm, F.P.M. Cremers, Hester Y. Kroes, Robert K. Koenekoop, Suzanne Yzer, M M van Genderen

Publikováno v: Journal of Medical Genetics, 40, 709-13
Journal of Medical Genetics, 40, 9, pp. 709-13

Autosomal recessive retinal dystrophies cause visual impairment in approximately 1 in 4000 individuals worldwide.1 The non-syndromic forms are highly heterogeneous and can be classified into clinical subgroups, the most frequent ones being retinitis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63e44608b47e3935bab1e43b4a8ab204
https://doi.org/10.1136/jmg.40.9.709

Microcephaly with chorioretinopathy

Autor: J Schuil, Françoise Meire, M. M. Van Genderen

Publikováno v: Ophthalmic Genetics. 18:199-207

This is a report of seven new cases of microcephaly with chorioretinopathy. Three cases were sporadic and four were dominant: a father and son, and a father and daughter. Their ophthalmological, neurological, and systemic findings are discussed as ar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0a75559e2b581bb702686644610b47c7
https://doi.org/10.3109/13816819709041435

Chiasmal misrouting and foveal hypoplasia without albinism

Autor: J Schuil, Frans C. C. Riemslag, M. M. Van Genderen, J. S. Stilma, Françoise Meire, Frank P. Hoeben

Publikováno v: The British journal of ophthalmology. 90(9)

Background/aims: To present the ophthalmological and electrophysiological characteristics of three darkly pigmented, female patients with misrouting and foveal hypoplasia. One of the patients had primary ciliary dyskinesia and situs inversus totalis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f2331c86a323db3ad8baafe9adc84be
https://pubmed.ncbi.nlm.nih.gov/16929052