Search for Articles

Article

16 Citations

20,196 Views

18 Pages

A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes

Amanda Petrelli Cicerone,
Wendy Dailey,
Michael Sun,
Andrew Santos,
Daeun Jeong,
Lance Jones,
Konstaninos Koustas,
Mary Drekh,
Keaton Schmitz and
Kenneth P. Mitton
+ 7 authors

Genes2022, 13(3), 495;https://doi.org/10.3390/genes13030495

-

11 March 2022

While Inherited Retinal Diseases (IRDs) are typically considered rare diseases, Familial Exudative Vitreo-Retinopathy (FEVR) and Norrie Disease (ND) are more rare than retinitis pigmentosa. We wanted to determine if multigenic protein-altering varian...

Full Article

Brief Report

6 Citations

2,849 Views

12 Pages

Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review

Zixuan Jiang and
Panfeng Wang

Genes2023, 14(3), 587;https://doi.org/10.3390/genes14030587

-

25 February 2023

Familial exudative vitreoretinopathy (FEVR) is a severe clinically and genetically heterogeneous disease that is characterized by vascular disorder. FEVR exhibits strikingly variable clinical phenotypes, ranging from asymptomatic to total blindness....

Full Article

Review

20 Citations

5,071 Views

20 Pages

Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome

Vincent Le,
Gabrielle Abdelmessih,
Wendy A. Dailey,
Cecille Pinnock,
Victoria Jobczyk,
Revati Rashingkar,
Kimberly A. Drenser and
Kenneth P. Mitton

Cells2023, 12(21), 2579;https://doi.org/10.3390/cells12212579

-

5 November 2023

Familial Exudative Vitreoretinopathy (FEVR), Norrie disease, and persistent fetal vascular syndrome (PFVS) are extremely rare retinopathies that are clinically distinct but are unified by abnormal retinal endothelial cell function, and subsequent irr...

Full Article

Article

21 Citations

4,480 Views

13 Pages

Update on the Phenotypic and Genotypic Spectrum of KIF11-Related Retinopathy

You Wang,
Zhaotian Zhang,
Li Huang,
Limei Sun,
Songshan Li,
Ting Zhang and
Xiaoyan Ding

Genes2022, 13(4), 713;https://doi.org/10.3390/genes13040713

-

18 April 2022

Background: This study aimed to report the frequency of KIF11-mutations in a large familial exudative vitreoretinopathy (FEVR) population, extend the clinical spectrum of KIF11-associated retinopathy and compare KIF11-associated retinopathy to FEVR w...

Full Article

Article

7 Citations

3,321 Views

12 Pages

Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy

Li Huang,
Jinglin Lu,
Linyan Zhang,
Zhaotian Zhang,
Limei Sun,
Songshan Li,
Ting Zhang,
Limei Chen,
Liming Cao and
Xiaoyan Ding

Genes2021, 12(7), 980;https://doi.org/10.3390/genes12070980

-

27 June 2021

Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by abnormalities in the retinal vasculature. The FZD4 gene is associated with FEVR, but the prevalence and impact of FZD4 copy number variation (CNV) on FEVR patients...

Full Article

Article

685 Views

18 Pages

Feasibility of Multimodal Deep Learning for Automated Staging of Familial Exudative Vitreoretinopathy Using Color Fundus Photographs and Fluorescein Angiography

Mingzhen Yuan,
Tianyu Wang,
Zirong Liu,
Jinghua Liu,
Jing Ma,
Guangda Deng,
Liang Li,
Songfeng Li,
Yan Hu and
Hai Lu

Diagnostics2025, 15(21), 2752;https://doi.org/10.3390/diagnostics15212752

-

30 October 2025

Introduction: To evaluate the feasibility of multimodal deep learning (DL) for automated staging of familial exudative vitreoretinopathy (FEVR) using color fundus photographs (CFP) and fluorescein angiography (FFA). Methods: We assembled a multimodal...

Full Article

Article

5 Citations

2,974 Views

10 Pages

Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series

Hiram J. Jimenez,
Rebecca A. Procopio,
Tobin B. T. Thuma,
Molly H. Marra,
Natalio Izquierdo,
Michael A. Klufas,
Aaron Nagiel,
Mark E. Pennesi and
Jose S. Pulido

Int. J. Mol. Sci.2022, 23(21), 13361;https://doi.org/10.3390/ijms232113361

-

1 November 2022

Signal peptide (SP) mutations are an infrequent cause of inherited retinal diseases (IRDs). We report the genes currently associated with an IRD that possess an SP sequence and assess the prevalence of these variants in a multi-institutional retrospe...

Full Article

Review

5 Citations

5,748 Views

25 Pages

Optical Coherence Tomography and Optical Coherence Tomography Angiography in Pediatric Retinal Diseases

Chung-Ting Wang,
Yin-Hsi Chang,
Gavin S. W. Tan,
Shu Yen Lee,
R. V. Paul Chan,
Wei-Chi Wu and
Andrew S. H. Tsai

Diagnostics2023, 13(8), 1461;https://doi.org/10.3390/diagnostics13081461

-

18 April 2023

Indirect ophthalmoscopy and handheld retinal imaging are the most common and traditional modalities for the evaluation and documentation of the pediatric fundus, especially for pre-verbal children. Optical coherence tomography (OCT) allows for in viv...

Full Article

8 Results Found

A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes

Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review

Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome

Update on the Phenotypic and Genotypic Spectrum of KIF11-Related Retinopathy

Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy

Feasibility of Multimodal Deep Learning for Automated Staging of Familial Exudative Vitreoretinopathy Using Color Fundus Photographs and Fluorescein Angiography

Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series

Optical Coherence Tomography and Optical Coherence Tomography Angiography in Pediatric Retinal Diseases