Familial Exudative Vitreoretinopathy.
Sign Up to like & getrecommendations! Published in 2017 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2016.5487
Abstract: This chapter is about familial exudative vitreoretinopathy. The diagnosis and classification of this hereditary disease is clarified. In addition, fluorescein angiography findings and OCT features are demonstrated and explained. read more here.
Keywords: exudative vitreoretinopathy; ophthalmology; familial exudative;
Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.503
Abstract: Both familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) are hereditary retinal disorders which can cause severe visual impairment and blindness at a young age. The present study aimed to report the use of antenatal… read more here.
Keywords: exudative vitreoretinopathy; norrie disease; diagnosis; familial exudative ... See more keywords
Mirror image of familial exudative vitreoretinopathy in identical twins
Sign Up to like & getrecommendations! Published in 2018 at "International Ophthalmology"
DOI: 10.1007/s10792-018-0875-5
Abstract: PurposeTo report the identical twins who had mirror fundus and angiographic images of familial exudative vitreoretinopathy (FEVR).Case presentationA pair of 16 year old female twins presented with mirror-image asymmetry of monocular decreased vision. The twins… read more here.
Keywords: exudative vitreoretinopathy; mirror image; familial exudative; identical twins ... See more keywords
Severe exudative vitreoretinopathy as a common feature for CTNNB1, KIF11 and NDP variants plus sector degeneration for KIF11.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2021.09.017
Abstract: PURPOSE To characterize ocular phenotypes in patients with CTNNB1, KIF11, or NDP variants. DESIGN Retrospective case series. METHODS Seventy-four patients from 59 unrelated families with CTNNB1, KIF11, and NDP variants were enrolled based on exome… read more here.
Keywords: ndp variants; exudative vitreoretinopathy; common feature; ctnnb1 kif11 ... See more keywords
Novel variants in familial exudative vitreoretinopathy patients with KIF11 mutations and the Genotype-Phenotype correlation.
Sign Up to like & getrecommendations! Published in 2020 at "Experimental eye research"
DOI: 10.1016/j.exer.2020.108165
Abstract: Familial exudative vitreoretinopathy (FEVR) is an inherited disease characterized by abnormal development of retinal vasculature. KIF11 mutations were identified to be associated with FEVR in recent years. The purpose of this study was to investigate… read more here.
Keywords: kif11 mutations; exudative vitreoretinopathy; patients kif11; familial exudative ... See more keywords
An induced pluripotent stem cell line (EHTJUi002-A) derived from a neonate with c.678G>A mutation in the gene FZD4 causing exudative vitreoretinopathy.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101932
Abstract: Familial exudative vitreoretinopathy (FEVR) is an autosomal dominant genetic disease. An induced pluripotent stem cell line (EHTJUi002-A) was generated from umbilical cord blood mononuclear cells (UCBMCs) of a neonate with heterozygous mutation of p.W226X(c.678G>A) in… read more here.
Keywords: exudative vitreoretinopathy; stem cell; pluripotent stem; induced pluripotent ... See more keywords
Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy
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DOI: 10.1038/s41467-019-13220-3
Abstract: Familial exudative vitreoretinopathy (FEVR) is a human disease characterized by defective retinal angiogenesis and associated complications that can result in vision loss. Defective Wnt/β-catenin signaling is an established cause of FEVR, whereas other molecular alterations… read more here.
Keywords: exudative vitreoretinopathy; linked kinase; integrin linked; retinal angiogenesis ... See more keywords
Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy.
Sign Up to like & getrecommendations! Published in 2022 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2021.0223
Abstract: Background: Familial exudative vitreoretinopathy (FEVR, OMIM 133780) is a severe inherited eye disease characterized by abnormal development of the retinal vasculature. Variants in the reported genes account for ∼50% of total FEVR cases. However, the… read more here.
Keywords: exudative vitreoretinopathy; novel variants; familial exudative; lrp5 gene ... See more keywords
ETIOLOGY AND CLINICAL CHARACTERISTICS OF MACULAR EDEMA IN PATIENTS WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.
Sign Up to like & getrecommendations! Published in 2019 at "Retina"
DOI: 10.1097/iae.0000000000002623
Abstract: PURPOSE To describe the etiology and clinical characteristics of macular edema (ME) in patients with familial exudative vitreoretinopathy. METHODS Observational, retrospective case series of 30 patients (34 eyes) with ME and familial exudative vitreoretinopathy who… read more here.
Keywords: etiology clinical; exudative vitreoretinopathy; macular edema; etiology ... See more keywords
Familial exudative vitreoretinopathy complicated with full thickness macular hole
Sign Up to like & getrecommendations! Published in 2018 at "Medicine"
DOI: 10.1097/md.0000000000011048
Abstract: Rationale: To report a case of familial exudative vitreoretinopathy (FEVR) complicated with full-thickness macular hole (FTMH). Patient concerns: A 39-year-old male presented after becoming aware of metamorphopsia in his left eye. Diagnoses: Fundus examination showed… read more here.
Keywords: exudative vitreoretinopathy; full thickness; familial exudative; thickness macular ... See more keywords
Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-108259
Abstract: Background Familial exudative vitreoretinopathy (FEVR) is an inheritable blinding disorder with clinical and genetic heterogeneity. Heterozygous variants in the CTNNB1 gene have been reported to cause FEVR. However, the pathogenic basis of CTNNB1-associated FEVR has… read more here.
Keywords: exudative vitreoretinopathy; variants ctnnb1; ctnnb1; familial exudative ... See more keywords