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

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: HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)

Summary: 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-asso

Externí odkaz: https://doaj.org/article/3a1d6bbbc0b84a3f9409fc1710e756ce

The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene

Autor: Leo C. Hahn, Michalis Georgiou, Hind Almushattat, Mary J. van Schooneveld, Emanuel R. de Carvalho, Nieneke L. Wesseling, Jacoline B. ten Brink, Ralph J. Florijn, Birgit I. Lissenberg-Witte, Ine Strubbe, Caroline van Cauwenbergh, Julie de Zaeytijd, Sophie Walraedt, Elfride de Baere, Rajarshi Mukherjee, Martin McKibbin, Magda A. Meester-Smoor, Alberta A.H.J. Thiadens, Saoud Al-Khuzaei, Engin Akyol, Andrew J. Lotery, Maria M. van Genderen, Jeannette Ossewaarde-van Norel, L. Ingeborgh van den Born, Carel B. Hoyng, Caroline C.W. Klaver, Susan M. Downes, Arthur A. Bergen, Bart P. Leroy, Michel Michaelides, Camiel J.F. Boon

Publikováno v: Ophthalmology Retina, 6, 711-722
Ophthalmology Retina, 6(8), 711-722. Elsevier Inc.
Ophthalmology Retina, 6, 8, pp. 711-722
OPHTHALMOLOGY RETINA
Hahn, L C, Georgiou, M, Almushattat, H, van Schooneveld, M J, de Carvalho, E R, Wesseling, N L, ten Brink, J B, Florijn, R J, Lissenberg-Witte, B I, Strubbe, I, van Cauwenbergh, C, de Zaeytijd, J, Walraedt, S, de Baere, E, Mukherjee, R, McKibbin, M, Meester-Smoor, M A, Thiadens, A A H J, Al-Khuzaei, S, Akyol, E, Lotery, A J, van Genderen, M M, Ossewaarde-van Norel, J, van den Born, L I, Hoyng, C B, Klaver, C C W, Downes, S M, Bergen, A A, Leroy, B P, Michaelides, M & Boon, C J F 2022, ' The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene ', Ophthalmology Retina, vol. 6, no. 8, pp. 711-722 . https://doi.org/10.1016/j.oret.2022.03.008
Ophthalmology Retina, 6, 711-722. Elsevier Inc.
OPHTHALMOLOGY RETINA, 6(8), 711-722. ELSEVIER INC

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 future therapeutic trials.Design: Internation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::046baa46cd2205c2b17d8f2c267485ad
https://doi.org/10.1016/j.oret.2022.03.008

CRB1-Associated Retinal Dystrophies

Autor: Alberta A H J Thiadens, Carel B. Hoyng, Marta Fiocco, Magda A. Meester-Smoor, Maria M. van Genderen, Herman E Talsma, Camiel J. F. Boon, L. Ingeborgh van den Born, Jan Wijnholds, Jacoline B. ten Brink, Frans P.M. Cremers, Arthur A.B. Bergen, Mary J. van Schooneveld, Ralph J. Florijn, Xuan-Thanh-An Nguyen, Caroline C W Klaver, Nicoline E. Schalij-Delfos, Mays Talib

Publikováno v: American Journal of Ophthalmology, 234, 37-48. Elsevier USA
American journal of ophthalmology, 234, 37-48. Elsevier USA
American Journal of Ophthalmology, 234, 37-48. Elsevier Inc.

PURPOSE: To investigate the natural disease course of retinal dystrophies associated with crumbs cell polarity complex component 1 (CRB1) and identify clinical end points for future clinical trials. DESIGN: Single-center, prospective case series. MET

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5afce13119718639c0ccffb6d6f9b4b9
https://doi.org/10.1016/j.ajo.2021.07.021

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