Mary J van Schooneveld
Overview
Explore the profile of Mary J van Schooneveld including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
52
Citations
1284
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Karuntu J, Almushattat H, Nguyen X, Plomp A, Wanders R, Hoyng C, et al.
Prog Retin Eye Res
. 2024 Dec;
:101324.
PMID: 39733931
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations...
2.
Heutinck P, van den Born L, Vermeer M, Iglesias Gonzales A, Hoyng C, Pott J, et al.
Invest Ophthalmol Vis Sci
. 2024 Aug;
65(10):40.
PMID: 39189993
Purpose: Gene-based therapies for inherited retinal dystrophies (IRDs) are upcoming. Treatment before substantial vision loss will optimize outcomes. It is crucial to identify common phenotypes and causative genes in children....
3.
Hahn L, van der Veen I, Georgiou M, van Schooneveld M, Ten Brink J, Florijn R, et al.
Ophthalmol Retina
. 2024 Aug;
9(1):78-88.
PMID: 39128788
Purpose: To describe phenotypic, genotypic, and histopathological features of inherited retinal dystrophies associated with the CRX gene (CRX-RDs). Design: Retrospective multicenter cohort study including histopathology. Subjects: Thirty-nine patients from 31...
4.
de Muijnck C, van Schooneveld M, Plomp A, Rodenburg R, van Genderen M, Boon C
Am J Ophthalmol Case Rep
. 2024 May;
34:102070.
PMID: 38756953
Purpose: To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of gene variant m.8969G > A. Observations: A 20-year-old patient with a history...
5.
Hensman J, Hahn L, van Schooneveld M, Diederen R, Ten Brink J, Florijn R, et al.
Ophthalmol Retina
. 2023 Dec;
8(6):600-606.
PMID: 38104928
Purpose: To date, there is no standard treatment regimen for carbonic anhydrase inhibitors (CAIs) in X-linked retinoschisis (XLRS) patients. This retrospective study aims to evaluate the efficacy of CAIs on...
6.
Karuntu J, Nguyen X, Talib M, van Schooneveld M, Wijnholds J, van Genderen M, et al.
Acta Ophthalmol
. 2023 Sep;
102(4):469-477.
PMID: 37749859
Purpose: To assess the longitudinal vision-related quality of life among patients with CRB1-associated inherited retinal dystrophies. Methods: In this longitudinal questionnaire study, the National Eye Institute Visual Function Questionnaire (39...
7.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born L, Fajardy I, et al.
HGG Adv
. 2023 Feb;
4(2):100181.
PMID: 36785559
A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of...
8.
Van de Sompele S, Small K, Cicekdal M, Lopez Soriano V, Dhaene E, Shaya F, et al.
Am J Hum Genet
. 2022 Oct;
109(11):2029-2048.
PMID: 36243009
North Carolina macular dystrophy (NCMD) is a rare autosomal-dominant disease affecting macular development. The disease is caused by non-coding single-nucleotide variants (SNVs) in two hotspot regions near PRDM13 and by...
9.
Hahn L, Georgiou M, Almushattat H, van Schooneveld M, de Carvalho E, Wesseling N, et al.
Ophthalmol Retina
. 2022 Mar;
6(8):711-722.
PMID: 35314386
Objective: To describe the spectrum of Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) associated with the GUCY2D gene and to identify potential end points and optimal patient selection for...
10.
Hahn L, van Schooneveld M, Wesseling N, Florijn R, Ten Brink J, Lissenberg-Witte B, et al.
Ophthalmology
. 2021 Oct;
129(2):191-202.
PMID: 34624300
Purpose: To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS). Design: Retrospective cohort study. Participants: Three hundred forty patients with XLRS from 178 presumably unrelated...