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

The phenotypic spectrum of patients with pharc syndrome due to variants in abhd12: An ophthalmic perspective

Autor: Carel B. Hoyng, Catherina H Z Li, Bart P. Leroy, Hind Almushattat, Michalis Georgiou, Elfride De Baere, Camiel J. F. Boon, Mary J. van Schooneveld, Ralph J. Florijn, Michel Michaelides, Ine Strubbe, Arthur A.B. Bergen, Xuan-Thanh-An Nguyen, Inge Joniau

Publikováno v: Genes, 12(9):1404. Multidisciplinary Digital Publishing Institute (MDPI)
Genes, Vol 12, Iss 1404, p 1404 (2021)
Genes
Volume 12
Issue 9
Genes, 12, 9
Genes, 12(9). MDPI
Genes, 12
GENES

This study investigated the phenotypic spectrum of PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and early-onset cataract) syndrome caused by biallelic variants in the ABHD12 gene. A total of 15 patients from 12 different families

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48f2c0c0789a27f62d4e5773e792c9e6
https://pure.amc.nl/en/publications/the-phenotypic-spectrum-of-patients-with-pharc-syndrome-due-to-variants-in-abhd12-an-ophthalmic-perspective(e974398a-195f-4a6c-872b-ecd8778be882).html

Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4

Autor: M. M. van Genderen, G. C. de Wit, Ralph J. Florijn, C. C. Kruijt, Nicoline E. Schalij-Delfos

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Scientific Reports, 11(1). NATURE PORTFOLIO
Scientific Reports
Scientific reports, 11(1):11572. Nature Publishing Group

To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Du

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75ff87db75218d7b67270c4cb6efef65
https://hdl.handle.net/1887/3213213

Genotype-phenotype correlation in pseudoxanthoma elasticum

Autor: Annette F. Baas, Bram van Os, Shana Verschuere, Chris P. Mol, Ralph J. Florijn, Wilko Spiering, Jonas W. Bartstra, Willem P.Th.M. Mali, Jeroen Hendrikse, Saskia M. Imhof, Pim A. de Jong, Redmer van Leeuwen, Jeannette Ossewaarde-van Norel, Olivier Vanakker, Lianne Kalsbeek, Sara Risseeuw

Publikováno v: Atherosclerosis, 324, 18-26. Elsevier Ireland Ltd
ATHEROSCLEROSIS

Background and aims Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic variability. We investigated the association betwee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d16cd4ee4799dc6e953c40a5bcb68d42
https://pubmed.ncbi.nlm.nih.gov/33812167