Somatostatin analogues as a treatment option for cystoid maculopathy in retinitis pigmentosa

Autor: P Martin van Hagen, L Ingeborgh van den Born, Caroline C W Klaver, Alberta A H J Thiadens, Pam A T Heutinck, Jan A M van Laar, Dzenita Smailhodzic, Magda A Meester-Smoor, Virginie J M Verhoeven

Publikováno v: BMJ Open Ophthalmology, Vol 9, Iss 1 (2024)

Aims This study aimed to evaluate the effectiveness of somatostatin analogues (SA) for cystoid maculopathy (CM) in retinitis pigmentosa (RP) patients.Materials and methods In this retrospective case series, clinical and imaging characteristics of 28

Externí odkaz: https://doaj.org/article/59d13dec30f34c23adcab9e856152a2a

Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.

Autor: Qin Liu, Rob W J Collin, Frans P M Cremers, Anneke I den Hollander, L Ingeborgh van den Born, Eric A Pierce

Publikováno v: PLoS ONE, Vol 7, Iss 8, p e43251 (2012)

Mutations in the retinitis pigmentosa 1 (RP1) gene are a common cause of autosomal dominant retinitis pigmentosa (adRP), and have also been found to cause autosomal recessive RP (arRP) in a few families. The 33 dominant mutations and 6 recessive RP1

Externí odkaz: https://doaj.org/article/1c0deac3c0c941879c0ae5a972eeb160

X-Linked Retinoschisis

Autor: Camiel J. F. Boon, Julie De Zaeytijd, Mary J. van Schooneveld, Maria M. van Genderen, Ralph J. Florijn, Bart P. Leroy, Carel B. Hoyng, Paul A. Sieving, Alberta A H J Thiadens, Sophie Walraedt, Jeannette Ossewaarde-van Norel, Magda A. Meester-Smoor, Leo C. Hahn, Birgit I. Lissenberg-Witte, Arthur A.B. Bergen, Jacoline B. ten Brink, Elfride De Baere, Nieneke L. Wesseling, Caroline Van Cauwenbergh, Caroline C W Klaver, Roselie M. Diederen, L. Ingeborgh van den Born, Ine Strubbe

Publikováno v: Ophthalmology. 129:191-202

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 families. Methods This

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d8661214be1e867291fdfeec52da7f04
https://doi.org/10.1016/j.ophtha.2021.09.021

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Autor: Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

Publikováno v: Human Genetics and Genomics Advances, 4(2):100181. Cell Press
HGG Advances, 4, 2
HGG Advances, 4
Reurink, J, Weisschuh, N, Garanto, A, Dockery, A, van den Born, L I, Fajardy, I, Haer-Wigman, L, Kohl, S, Wissinger, B, Farrar, G J, Ben-Yosef, T, Pfiffner, F K, Berger, W, Weener, M E, Dudakova, L, Liskova, P, Sharon, D, Salameh, M, Offenheim, A, Heon, E, Girotto, G, Gasparini, P, Morgan, A, Bergen, A A, ten Brink, J B, Klaver, C C W, Tranebjærg, L, Rendtorff, N D, Vermeer, S, Smits, J J, Pennings, R J E, Aben, M, Oostrik, J, Astuti, G D N, Corominas Galbany, J, Kroes, H Y, Phan, M, van Zelst-Stams, W A G, Thiadens, A A H J, Verheij, J B G M, van Schooneveld, M J, de Bruijn, S E, Li, C H Z, Hoyng, C B, Gilissen, C, Vissers, L E L M, Cremers, F P M, Kremer, H, van Wijk, E & Roosing, S 2023, ' Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction ', Human Genetics and Genomics Advances, vol. 4, no. 2, 100181 . https://doi.org/10.1016/j.xhgg.2023.100181

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 USH2A-associated di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::738005d80cd108af5fb405557195a4c1
https://hdl.handle.net/2066/290499

Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network

Autor: Joana Tavares, L. Ingeborgh van den Born, Hendrik P. N. Scholl, Birgit Lorenz, João Pedro Marques

Publikováno v: Ophthalmic Research. 64:740-753

Purpose: The first ocular gene augmentation therapy, voretigene neparvovec (VN) (Luxturna®), has been approved for clinical use in an increasing number of countries (FDA USA 2017, EMA Europe 2018, MoHAP United Arab Emirates 2019, SFDA Saudi Arabia 2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9ef509e83c5a34ef0fecd7eacac66dcf
https://doi.org/10.1159/000515688