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
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
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
Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Ophthalmology"
DOI: 10.1155/2017/3080245
Abstract: Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort… read more here.
Keywords: exudative vitreoretinopathy; genotype phenotype; phenotype characterization; familial exudative ... See more keywords
An SNX31 variant underlies dominant familial exudative vitreoretinopathy-like pathogenesis.
Sign Up to like & getrecommendations! Published in 2023 at "JCI insight"
DOI: 10.1172/jci.insight.167032
Abstract: Familial exudative vitreoretinopathy (FEVR) is a complex hereditary eye disorder characterized by incomplete development of the retinal vasculature, thereby affecting retinal angiogenesis. But the genetic factors contributing to its development or pathogenesis remain elusive. In… read more here.
Keywords: exudative vitreoretinopathy; familial exudative; snx31; pathogenesis ... See more keywords
Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Ophthalmology"
DOI: 10.1177/11206721221074209
Abstract: Purpose To investigate causative variants in three Chinese families affected with familial exudative vitreoretinopathy (FEVR). Methods Three unrelated Chinese families were recruited in this study. The three probands and their family members experienced a comprehensive… read more here.
Keywords: exudative vitreoretinopathy; family; familial exudative; whole exome ... See more keywords