Exome sequencing in patients with chronic central serous chorioretinopathy

Autor: Eiko K. de Jong, Christian Gilissen, Anneke I. den Hollander, Myrte B. Breukink, Carel B. Hoyng, Camiel J. F. Boon, Rosa L. Schellevis

Publikováno v: Scientific Reports
Scientific Reports, 9
Scientific reports, 9(1):6598. Nature Publishing Group
Scientific Reports, Vol 9, Iss 1, Pp 1-7 (2019)

Chronic central serous chorioretinopathy (cCSC) is a multifactorial eye disease characterized by subretinal fluid accumulation that leads to vision loss. Clinically, cCSC is associated with stress, hypercortisolism and corticosteroid use, and is more

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cd02c3f537fe45d6a3ecc4ac837bb03
https://hdl.handle.net/1887/121066

Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy

Autor: Shigeru Honda, Takehiro Sato, Sotaro Ooto, Eiko K. de Jong, Hideo Nakanishi, Tien Yin Wong, Chieko Shiragami, Tomohiro Iida, Yuki Muraoka, Yoichi Sakurada, Ryo Yamada, Kenji Yamashiro, Carel B. Hoyng, Nobuhisa Mizuki, Camiel J. F. Boon, Naoko Ueda-Arakawa, Akio Oishi, Fumihiko Matsuda, Masahiro Miyake, Hiroshi Tamura, Manabu Miyata, Akira Meguro, Akitaka Tsujikawa, Chiea Chuen Khor, Yoshikatsu Hosoda, Atsushi Tajima, Ayako Takahashi, Akihito Uji, Akiko Miki, Yukari Takasago, Rosa L. Schellevis, Seigo Yoneyama, Masayuki Hata, Anneke I. den Hollander

Publikováno v: Communications Biology, 2(1):468. Springer Nature
Communications Biology, 2
Communications Biology, Vol 2, Iss 1, Pp 1-9 (2019)
Communications Biology, 2. Nature Research (part of Springer Nature): Fully open access journals / Nature Publishing Group
Communications Biology

The recently emerged pachychoroid concept has changed the understanding of age-related macular degeneration (AMD), which is a major cause of blindness; recent studies attributed AMD in part to pachychoroid disease central serous chorioretinopathy (CS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0fc2e9c94bcd9a84e27121dea2b2c55
https://doi.org/10.1038/s42003-019-0712-z

Exome sequencing in families with chronic central serous chorioretinopathy

Autor: Gijs W. E. Santen, Rosa L. Schellevis, Elon H. C. van Dijk, Jan E.E. Keunen, Camiel J. F. Boon, Myrte B. Breukink, Carel B. Hoyng, Eiko K. de Jong, Anneke I. den Hollander

Publikováno v: Molecular Genetics and Genomic Medicine, 7(4):e00576. John Wiley and Sons Inc.
Molecular Genetics & Genomic Medicine, 7
Molecular Genetics and Genomic Medicine, 7(4)
Molecular Genetics & Genomic Medicine, 7, 4
Molecular genetics and genomic medicine, 7(4):e00576. John Wiley and Sons Inc.
Molecular Genetics & Genomic Medicine
Schellevis, R L, van Dijk, E H C, Breukink, M B, Keunen, J E E, Santen, G W E, Hoyng, C B, de Jong, E K, Boon, C J F & den Hollander, A I 2019, ' Exome sequencing in families with chronic central serous chorioretinopathy ', Molecular Genetics and Genomic Medicine, vol. 7, no. 4, e00576 . https://doi.org/10.1002/mgg3.576

Background: Central serous chorioretinopathy (CSC) is a chorioretinal disease characterized by fluid accumulation between the neuroretina and retinal pigment epithelium with unknown etiology. Family studies have suggested a heritable component for CS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48ec963705bf3c6a87d661626ae8e8b6
https://research.vumc.nl/en/publications/beaca09c-6f02-414f-8d4a-0dcdf20ff69e

Systemic and ocular fluid compounds as potential biomarkers in age-related macular degeneration

Autor: Eiko K. de Jong, Caroline C W Klaver, Marius Ueffing, Tunde Peto, Cécile Delcourt, Sascha Dammeier, Constantin C. Paun, Imre Lengyel, Rosa L. Schellevis, Carel B. Hoyng, Anneke I. den Hollander, Eveline Kersten

Publikováno v: Survey of Ophthalmology, 63, 9-39
Survey of Ophthalmology
Survey of Ophthalmology, 63(1), 9-39. Elsevier Inc.
Survey of Ophthalmology, Elsevier, 2018, 63 (1), pp.9-39. ⟨10.1016/j.survophthal.2017.05.003⟩
Kersten, E, Paun, C C, Schellevis, R L, Hoyng, C B, Delcourt, C, Lengyel, I, Peto, T, Ueffing, M, Klaver, C C W, Dammeier, S, den Hollander, A I & de Jong, E K 2017, ' Systemic and ocular fluid compounds as potential biomarkers in age-related macular degeneration ', Survey of ophthalmology, vol. 63 . https://doi.org/10.1016/j.survophthal.2017.05.003
Survey of Ophthalmology, 63, 1, pp. 9-39

Contains fulltext : 190748.pdf (Publisher’s version ) (Open Access) Biomarkers can help unravel mechanisms of disease and identify new targets for therapy. They can also be useful in clinical practice for monitoring disease progression, evaluation

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http://hdl.handle.net/2066/190748

Association of a Haplotype in the NR3C2 Gene, Encoding the Mineralocorticoid Receptor, With Chronic Central Serous Chorioretinopathy

Autor: Eiko K. de Jong, Paula Scholz, Carel B. Hoyng, Anneke I. den Hollander, Rosa L. Schellevis, Camiel J. F. Boon, Sascha Fauser, Myrte B. Breukink, Onno C. Meijer, Lebriz Altay, Maaike G.J.M. van Bergen, Elon H. C. van Dijk

Publikováno v: JAMA Ophthalmology, 135(5), 446-451
Jama Ophthalmology, 135, 446-451
Jama Ophthalmology, 135, 5, pp. 446-451

Item does not contain fulltext Importance: Chronic central serous chorioretinopathy (cCSC) is a chorioretinal disease with unknown disease etiology. The glucocorticoid receptor and the mineralocorticoid receptor, 2 glucocorticoid-binding receptors, m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1be09db9e6fc165502e4f9b41834b7f
https://hdl.handle.net/1887/114752