Search details
1.
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genet Med
; 21(8): 1751-1760, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30643219
2.
International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.
J Neuroophthalmol
; 37(4): 371-381, 2017 12.
Article
in English
| MEDLINE | ID: mdl-28991104
3.
Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa.
Am J Ophthalmol
; 246: 1-9, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36252678
4.
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.
Mol Vis
; 18: 412-25, 2012.
Article
in English
| MEDLINE | ID: mdl-22355252
5.
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Ophthalmology
; 119(4): 819-26, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22264887
6.
Impact of upper blepharoplasty, with or without orbicularis oculi muscle removal, on tear film dynamics and dry eye symptoms: A randomized controlled trial.
Acta Ophthalmol
; 100(5): 564-571, 2022 Aug.
Article
in English
| MEDLINE | ID: mdl-34612583
7.
Clinical outcomes of treatment with idebenone in Leber's hereditary optic neuropathy in the Netherlands: A national cohort study.
Acta Ophthalmol
; 100(6): 700-706, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-35394113
8.
Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.
Acta Ophthalmol
; 100(4): 395-402, 2022 Jun.
Article
in English
| MEDLINE | ID: mdl-34431609
9.
[New treatment option for Leber hereditary optic neuropathy: early diagnosis is required]. / Nieuwe therapie voor hereditaire opticusneuropathie van Leber.
Ned Tijdschr Geneeskd
; 1652021 10 28.
Article
in Dutch
| MEDLINE | ID: mdl-34854587
10.
Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation.
Acta Ophthalmol
; 99(4): 397-404, 2021 Jun.
Article
in English
| MEDLINE | ID: mdl-33073538
11.
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.
Invest Ophthalmol Vis Sci
; 60(13): 4249-4256, 2019 10 01.
Article
in English
| MEDLINE | ID: mdl-31618761
12.
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.
Invest Ophthalmol Vis Sci
; 59(11): 4384-4391, 2018 09 04.
Article
in English
| MEDLINE | ID: mdl-30193310
13.
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
Invest Ophthalmol Vis Sci
; 59(8): 3220-3231, 2018 07 02.
Article
in English
| MEDLINE | ID: mdl-29971439
14.
Six patients with bradyopsia (slow vision): clinical features and course of the disease.
Ophthalmology
; 114(12): 2323-31, 2007 Dec.
Article
in English
| MEDLINE | ID: mdl-17826834
15.
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
Sci Rep
; 6: 28253, 2016 06 24.
Article
in English
| MEDLINE | ID: mdl-27339364
16.
A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.
Invest Ophthalmol Vis Sci
; 56(12): 7418-26, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26574802
17.
Radiation optic neuropathy after external beam radiation therapy for acromegaly: report of two cases.
Radiother Oncol
; 68(2): 101-3, 2003 Aug.
Article
in English
| MEDLINE | ID: mdl-12972303
18.
The polaroid suppression test in a pediatric population with ophthalmologic disorders.
J AAPOS
; 7(2): 137-41, 2003 Apr.
Article
in English
| MEDLINE | ID: mdl-12736628
19.
Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.
Acta Ophthalmol
; 92(3): 276-81, 2014 May.
Article
in English
| MEDLINE | ID: mdl-23742260
20.
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
Invest Ophthalmol Vis Sci
; 51(7): 3646-52, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20130272