Výsledky vyhledávání - "Jan-Willem R. Pott"

Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa

Autor: Xuan-Thanh-An Nguyen, Alberta A.H.J. Thiadens, Marta Fiocco, Weijen Tan, Martin McKibbin, Caroline C.W. Klaver, Magda A. Meester-Smoor, Caroline Van Cauwenbergh, Ine Strubbe, Andrea Vergaro, Jan-Willem R. Pott, Carel B. Hoyng, Bart P. Leroy, Reda Zemaitiene, Kamron N. Khan, Camiel J.F. Boon

Publikováno v: American journal of ophthalmology, 246, 1-9. Elsevier USA
American Journal of Ophthalmology, 246, pp. 1-9
American Journal of Ophthalmology, 246, 1-9
American Journal of Ophthalmology, 246, 1-9. Elsevier Inc.
American journal of ophthalmology, 246, 1-9. ELSEVIER SCIENCE INC
AMERICAN JOURNAL OF OPHTHALMOLOGY

Contains fulltext : 290816.pdf (Publisher’s version ) (Open Access) PURPOSE: To assess the visual outcome of cataract surgery in patients with retinitis pigmentosa (RP). DESIGN: Retrospective, noncomparative clinical study. METHODS: Preoperative, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::964ac5d258c2c03ea1d9d74f77863a77
https://doi.org/10.1016/j.ajo.2022.10.001

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Impact of upper blepharoplasty, with or without orbicularis oculi muscle removal, on tear film dynamics and dry eye symptoms

Autor: Rutger H. Schepers, Konstantina Delli, Maria H J Hollander, Arjan Vissink, Johan Jansma, Jan Willem R. Pott

Publikováno v: Acta ophthalmologica, 100(5), 564-571. Wiley

PURPOSE: Upper blepharoplasty may be related to dry eye symptoms since the function of the orbicularis oculi muscle may affect the tear film. We aimed to assess the effect of blepharoplasty with or without the removal of a strip of orbicularis oculi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef708adc67bfdfbbcea4b38f0822c9d3
https://doi.org/10.1111/aos.15036

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Clinical outcomes of treatment with idebenone in Leber's hereditary optic neuropathy in the Netherlands: A national cohort study

Autor: Judith A. M. van Everdingen, Jan Willem R. Pott, Noël J. C. Bauer, Anna M. Krijnen, Tanya Lushchyk, René J. Wubbels

Publikováno v: Acta ophthalmologica, 100(6), 700-706. Wiley
Acta Ophthalmologica, 100(6), 700-706. Wiley

PURPOSE: The purpose of the study was to present results from a national Dutch cohort of patients with Leber's Hereditary Optic Neuropathy (LHON) treated with idebenone.METHODS: The multicentre, open-label, retrospective evaluation of the long-term o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3e934b0d22877df18514c18b7074997
https://research.rug.nl/en/publications/5f1652f3-d8d7-4010-9ea7-e8f45f50d270

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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

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[New treatment option for Leber hereditary optic neuropathy: early diagnosis is required]

Autor: Judith A M, van Everdingen, Martha, Tjon-Fo-Sang, L I, van den Born, Jan Willem R, Pott

Publikováno v: Nederlands tijdschrift voor geneeskunde. 165

Leber hereditary optic neuropathy (LHON) is an orphan disease which leads to painless subacute loss of central vision in both eyes. It develops mainly in young adults and is more common in males. It most often leads to lifelong blindness. Idebenone h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3e773143b861c62fe43387a21fc38cad
https://pubmed.ncbi.nlm.nih.gov/34854587

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Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles

Autor: Jan-Willem R. Pott, Galuh D.N. Astuti, Esmee H. Runhart, Christian Gilissen, Silvia Albert, Carel B. Hoyng, Stéphanie S. Cornelis, Dyon Valkenburg, Joke B. G. M. Verheij, Riccardo Sangermano, Ellen A.W. Blokland, Mubeen Khan, Frans P.M. Cremers, L. Ingeborgh van den Born, Nathalie M. Bax

Publikováno v: Investigative Ophthalmology and Visual Science, 60, 4249-4256
Investigative Ophthalmology and Visual Science, 60, 13, pp. 4249-4256
Investigative ophthalmology & visual science, 60(13), 4249-4256. ASSOC RESEARCH VISION OPHTHALMOLOGY INC

PURPOSE. To investigate the role of two deep-intronic ABCA4 variants, that showed a mild splice defect in vitro and can occur on the same allele as the low penetrant c.5603A>T, in Stargardt disease (STGD1).METHODS. Ophthalmic data were assessed of 18

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc3ee68399eb4e303c1d2ab5554fcf95
https://hdl.handle.net/11370/cd3c02c0-39e7-43fb-b30a-8a48fdecccec

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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Publikováno v: Genetics in Medicine, 21(8), 1751-1760. Nature Publishing Group
Genetics in Medicine, 21(8), 1751-1760. Lippincott Williams & Wilkins
Genetics in Medicine
GENETICS IN MEDICINE

Purpose: Using exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored autosomal recessive Stargardt disease (STGD1) as a model to identify the missing heritability.Methods: Sequencin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::289b1faa5a30558c06f691696f4e3d71
https://pure.eur.nl/en/publications/67736d86-6d3e-4010-858e-93d127fc0772

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The development and treatment of V-pattern and upshoot in adduction in cyclic esotropia

Autor: Jan-Willem R. Pott, J T H N de Faber, T. B. Kerkhof, D Godts

Publikováno v: 28th European Strabismological Association Meeting

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6142c9f2b6cc766535743c330f902073
https://doi.org/10.1201/9781003077541-77

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LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS

Autor: Maria M. van Genderen, Babak Ghafaryasl, F. Nienke Boonstra, Frans P.M. Cremers, Caroline C W Klaver, Susanne Yzer, J Schuil, Martha J.H. Tjon-Fo-Sang, Koenraad A. Vermeer, Laurence H M Pierrache, Jan Tjeerd H. N. de Faber, Muhammad Imran Khan, L. Ingeborgh van den Born, Jan Willem R. Pott

Publikováno v: Retina-The Journal of Retinal and Vitreous Diseases, 40, 1812-1828
Retina-The Journal of Retinal and Vitreous Diseases, 40, 9, pp. 1812-1828
Retina (Philadelphia, Pa.), 40(9), 1812-1828
Retina-The journal of retinal and vitreous diseases, 40(9), 1812-1828. LIPPINCOTT WILLIAMS & WILKINS

Contains fulltext : 225467.pdf (Publisher’s version ) (Closed access) PURPOSE: To study the disease course of RPE65-associated inherited retinal degenerations (IRDs) as a function of the genotype, define a critical age for blindness, and identify p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0009bd418ea912b950c6a1f0b6c63e49
http://hdl.handle.net/2066/225467

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The common ABCA4 variant p.Asn1868ile shows nonpenetrance and variable expression of stargardt disease when present in trans with severe variants

Autor: Klaus Rohrschneider, Saskia D. van der Velde-Visser, Ellen A.W. Blokland, Dorien Lugtenberg, L. Ingeborgh van den Born, Nathalie M. Bax, Frans P.M. Cremers, Carel B. Hoyng, Marlie H M Jacobs-Camps, Joke B. G. M. Verheij, Stéphanie S. Cornelis, Caroline C W Klaver, Riccardo Sangermano, Camiel J. F. Boon, Astrid S. Plomp, Alberta A H J Thiadens, Jan-Willem R. Pott, Esmee H. Runhart, Susanne Roosing

Publikováno v: Investigative ophthalmology & visual science, 59(8), 3220-3231. ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology and Visual Science, 59, 3220-3231
Investigative Ophthalmology & Visual Science, 59(8), 3220-3231
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology and Visual Science, 59, 8, pp. 3220-3231
Investigative ophthalmology & visual science, 59(8), 3220-3231. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology & Visual Science, 59(8), 3220-3231. Association for Research in Vision and Ophthalmology Inc.

PURPOSE. To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic causal ABCA4 variants.METHODS. The coding and noncoding regions of ABCA4 were sequ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2afa36c786f5466af0e4c23bc2aa337b
https://doi.org/10.1167/iovs.18-23881

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