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

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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[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

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