Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation

Autor: Barbara C. H. Huijgen, Maria M. van Genderen, Willemijn F. E. Kuper, Herman E Talsma, Peter M. van Hasselt, Gerard C. de Wit, Jan Willem R. Pott, Mary J. van Schooneveld

Publikováno v: Acta ophthalmologica, 99(4), 397-404. Copenhagen Scriptor
Acta ophthalmologica, 99(4), 397-404. Wiley
Acta Ophthalmologica

Purpose To help differentiate CLN3 (Batten) disease, a devastating childhood metabolic disorder, from the similarly presenting early‐onset Stargardt disease (STGD1). Early clinical identification of children with CLN3 disease is essential for adequ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adf84efca27c8409aa04b4eb52aff117
https://doi.org/10.1111/aos.14630

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

Autor: Charlotte C. Kruijt, Libe Gradstein, Arthur A. Bergen, Ralph J. Florijn, Benoit Arveiler, Eulalie Lasseaux, Xavier Zanlonghi, Laura Bagdonaite-Bejarano, Anne B. Fulton, Claudia Yahalom, Anat Blumenfeld, Yonatan Perez, Ohad S. Birk, Gerard C. de Wit, Nicoline E. Schalij-Delfos, Maria M. van Genderen

Publikováno v: Kruijt, C C, Gradstein, L, Bergen, A A, Florijn, R J, Arveiler, B, Lasseaux, E, Zanlonghi, X, Bagdonaite-Bejaran, L, Fulton, A B, Yahalom, C, Blumenfeld, A, Perez, Y, Birk, O S, de Wit, G C, Schalij-Delfos, N E & van Genderen, M M 2022, ' The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism : Similarities and Differences ', Investigative Ophthalmology and Visual Science, vol. 63, no. 1, 19 . https://doi.org/10.1167/iovs.63.1.19
Investigative Ophthalmology & Visual Science, 63(1). ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology and Visual Science, 63(1):19. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science, 63(1). Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 63(1):19

PURPOSE. The purpose of this study was to further expand the mutational spectrum of the Foveal Hypoplasia, Optic Nerve Decussation defect, and Anterior segment abnormalities (FHONDA syndrome), to describe the phenotypic spectrum, and to compare it to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::325324e4b89613cc2a8007ac34b667ab
https://hdl.handle.net/1887/3485320

Prolonged Cone b-Wave on Electroretinography Is Associated with Severity of Inflammation in Noninfectious Uveitis

Autor: A. Brouwer, Maria M. van Genderen, Gerard C. de Wit, Ralph Wijnhoven, Joke H. de Boer, Ninette H. ten Dam

Publikováno v: American Journal of Ophthalmology, 207, 121. Elsevier USA

Purpose: This study sought to investigate retinal function in patients with noninfectious uveitis by using full-field electroretinography (ERG) and correlate the ERG to disease duration and severity of inflammation. Design: Prospective cohort study.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de849f74f450e826c4e3fa427872e47f
https://doi.org/10.1016/j.ajo.2019.05.028

An Unusual Phenotype in Dutch Patients With Oculocutaneous Albinism Type 4: Evident Hypopigmentation Without Other Ocular Deficits

Autor: Charlotte C Kruijt, Nicoline E Schalij-Delfos, Gerard C de Wit, Ralph F Florijn, Maria M van Genderen

Purpose: To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4).Patients and Methods: We collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c2bfe3a9af5292e38f8aab3e85d4f2fe
https://doi.org/10.21203/rs.3.rs-209795/v1

The Detection Of Misrouting In Albinism : Evaluation of Different VEP Procedures in a Heterogeneous Cohort

Autor: Gerard C. de Wit, Maria M. van Genderen, Charlotte C. Kruijt, Nicoline E. Schalij-Delfos, Herman E Talsma

Publikováno v: Investigative Ophthalmology & Visual Science, 60(12), 3963-3969
Investigative ophthalmology & visual science, 60(12), 3963. Association for Research in Vision and Ophthalmology Inc.

Purpose: To investigate the optimal procedures for multichannel visually evoked potentials (VEPs) to detect misrouting in albinism subjects. Methods: Investigations were done in a phenotypically heterogeneous group of 180 albinism subjects and 187 co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1297b308b82a20c1862353db652b2109
https://dspace.library.uu.nl/handle/1874/391591