Zobrazeno 1 - 10
of 1 284
pro vyhledávání: '"exudative vitreoretinopathy"'
Autor:
Wenjing Liu, Shujin Li, Mu Yang, Jie Ma, Lu Liu, Ping Fei, Qianchun Xiang, Lulin Huang, Peiquan Zhao, Zhenglin Yang, Xianjun Zhu
Publikováno v:
eLife, Vol 13 (2024)
Familial exudative vitreoretinopathy (FEVR) is a severe genetic disorder characterized by incomplete vascularization of the peripheral retina and associated symptoms that can lead to vision loss. However, the underlying genetic causes of approximatel
Externí odkaz:
https://doaj.org/article/d74e1bf8c8cd48a5a233414b8dbc8fa7
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-13 (2024)
Abstract Background To report newly found TSPAN12 mutations with a unique form of familial exudative vitreoretinopathy (FEVR) and find out the possible mechanism of a repeated novel intronic variant in TSPAN12 led to FEVR. Results Nine TSPAN12 mutati
Externí odkaz:
https://doaj.org/article/9fcaf2b6f0604a8ba31e2a990e099e4f
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
Familial exudative retinopathy (FEVR) is a hereditary disease involving abnormal retinal vascular development in which macular heterotopia (MH) caused by mechanical-like pulling of the vitreous may lead to pseudo-strabismus. We describe the case of a
Externí odkaz:
https://doaj.org/article/b7ea58ce0fa1445e99a9a7957597a04b
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
PurposeTo describe the role of cyanoacrylate glue in sealing iatrogenic retinal breaks (IRBs) during vitrectomy in stage 5 familial exudative vitreoretinopathy (FEVR) with funneled retinal detachment (RD).MethodsNine eyes of nine patients diagnosed a
Externí odkaz:
https://doaj.org/article/8d60bac82d284c9eafad9b956e087012
Autor:
Liam D. Redden, Douglas S.M. Iaboni, Sarah van der Ende, Mathew Nightingale, Daniel Gaston, Christopher R. McMaster, Johane M. Robitaille, R. Rishi Gupta
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 34, Iss , Pp 102051- (2024)
Purpose: To report a rare clinical finding of preretinal granules associated with atypical familial exudative vitreoretinopathy (FEVR) and perform a review of the literature. Observations: An asymptomatic 18-year-old male was referred for unilateral
Externí odkaz:
https://doaj.org/article/f431d01d49954f5086b1f69028654a4a
Publikováno v:
Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 129-135 (2024)
Introduction: This case report aims to shed light on a rare presentation of familial exudative vitreoretinopathy (FEVR) co-existing with a large full-thickness macular hole (FTMH) in a 16-year-old male and discuss its successful surgical management,
Externí odkaz:
https://doaj.org/article/a1ba2fe1ca5148fda78b3e4b22c2a1cf
Publikováno v:
International Journal of Ophthalmology, Vol 16, Iss 12, Pp 1952-1961 (2023)
AIM: To investigate the genetic and clinical characteristics of patients with a large heterozygous copy number deletion on 7q31.31-7q31.32. METHODS: A family with familial exudative vitreoretinopathy (FEVR) phenotype was included in the study. Whole-
Externí odkaz:
https://doaj.org/article/2620072502b24f0f886afea54e4db8fd
Publikováno v:
Case Reports in Ophthalmology, Vol 14, Iss 1, Pp 640-646 (2023)
In this case report, we aim to illustrate a presentation of familial exudative vitreoretinopathy (FEVR) that closely resembles incontinentia pigmenti (IP) and the role of genetic testing that is of no cost to the patient in providing the correct diag
Externí odkaz:
https://doaj.org/article/570be274180a4fe69ebf64391863a990
Autor:
Shujin Li, Mu Yang, Rulian Zhao, Li Peng, Wenjing Liu, Xiaoyan Jiang, Yunqi He, Erkuan Dai, Lin Zhang, Yeming Yang, Yi Shi, Peiquan Zhao, Zhenglin Yang, Xianjun Zhu
Publikováno v:
Genes and Diseases, Vol 10, Iss 6, Pp 2572-2585 (2023)
Endoplasmic reticulum (ER) membrane protein complex (EMC) is required for the co-translational insertion of newly synthesized multi-transmembrane proteins. Compromised EMC function in different cell types has been implicated in multiple diseases. Usi
Externí odkaz:
https://doaj.org/article/0c4f12a9a6714b3f8f53aa6ac4741f7a
Publikováno v:
Российский офтальмологический журнал, Vol 16, Iss 3, Pp 19-25 (2023)
Familial exudative vitreoretinopathy (FEVR) is a hereditary disease characterized by abnormal angiogenesis and avascular zones (AZ) on the retinal periphery. The leading method of treatment of its early stages (1–3) is laser coagulation (LC) of AZ
Externí odkaz:
https://doaj.org/article/d52c290ba0bb4b8ba6ee3eff83b6c527