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Aggressive Onset of a Progressive FEVR Phenotype in a Child With Novel Mutations in and .
J Vitreoretin Dis
April 2024
Retina Consultants, Ltd, Des Plaines, IL, USA.
To describe a patient with familial exudative vitreoretinopathy (FEVR) and the treatment course. A case was evaluated. A 3-year-old boy presented with severe onset of FEVR, with a subhyaloid hemorrhage in 1 eye and tractional retinal detachment (TRD) in the fellow eye.
View Article and Find Full Text PDFMutations in TSPAN12 gene causing familial exudative vitreoretinopathy.
Hum Genomics
March 2024
Department of Ophthalmology and Vision Science, Eye and ENT Hospital of Fudan University, 83 Fenyang Rd, Shanghai, 200031, China.
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 mutations with a unique form of FEVR were detected by panel-based NGS. MINI-Gene assay showed two splicing modes of mRNA that process two different bands A and B, and mutant-type shows replacement with the splicing mode of Exon11 hopping.
Deciphering a crucial dimeric interface governing Norrin dimerization and the pathogenesis of familial exudative vitreoretinopathy.
FASEB J
February 2024
The Sichuan Provincial Key Laboratory for Human Disease Gene Study, The Department of Medical Genetics, The Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disease that could cause blindness. It has been established that Norrin forms dimers to activate β-catenin signaling, yet the core interface for Norrin dimerization and the precise mechanism by which Norrin dimerization contributes to the pathogenesis of FEVR remain elusive. Here, we report an NDP variant, c.
View Article and Find Full Text PDFGenetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy.
Am J Ophthalmol
June 2024
From the Department of Ophthalmology and Vision Science, Eye and ENT Hospital of Fudan University (Y.J., L.Z., F.G., Y.Z., T.C., L.R., Q.C., T.Z., X.H.), Shanghai, China; Key Laboratory of Myopia of State Health Ministry and Key Laboratory of Visual Impairment and Restoration of Shanghai (Y.J., L.Z., F.G., Y.Z., T.C., L.R., Q.C., T.Z., X.H.), Shanghai, China. Electronic address:
Purpose: This study aimed to ascertain the occurrence of foveal hypoplasia (FH) in individuals diagnosed with familial exudative vitreoretinopathy (FEVR).
Design: Retrospective cohort study.
Methods: In this study, FEVR families and sporadic cases were diagnosed at the Eye and ENT Hospital, Fudan University, between 2017 and 2023.
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
J Transl Med
January 2024
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Article Synopsis
- Unilateral high myopia (uHM) in patients, often linked with amblyopia and poor outcomes, was studied in 75 Chinese children to explore its clinical and genetic characteristics.
- The majority of participants showed myopic fundus changes, with many exhibiting significant peripheral retinal issues, including avascular zones and neovascularization.
- Exome sequencing revealed genetic variants in about 27% of the cohort, primarily related to Stickler syndrome and FEVR, suggesting specific genetic ties to observed retinal changes.
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