Overview
Familial exudative vitreoretinopathy (FEVR) is a genetic disorder characterized by abnormal retinal angiogenesis leading to incomplete peripheral retinal vascularization, ischemia, and potential complications such as neovascularization, vitreous hemorrhage, and retinal detachment 135.Diagnosis
Clinical Features: Temporal neovascularization, vitreous hemorrhage, retinal detachment 5.
Genetic Testing: Recommended for confirmation, focusing on genes like FZD4, LRP5, NDP, and TSPAN12 4.
Imaging: Multimodal imaging including fundus photography, fluorescein angiography, and OCT to assess retinal vascular abnormalities 1.
Chromosomal Analysis: Chromosomal microarray analysis to identify microduplications or deletions (e.g., 22q11.2) 3.Management
Surgical Interventions: Active surgical management for complications like retinal detachment and vitreous hemorrhage 5.
Monitoring: Regular ophthalmological follow-up to monitor disease progression and manage complications 5.
Gene Therapy: Emerging potential, though specific protocols not detailed in current abstracts 4.Special Populations
Pediatrics: Premature infants may present with overlapping symptoms of retinopathy of prematurity (ROP), necessitating careful differentiation 1.
Genetic Considerations: FEVR can be inherited in various patterns (autosomal dominant, recessive, X-linked), influencing genetic counseling and testing strategies 14.Key Recommendations
Genetic Testing for Diagnosis: Perform genetic testing focusing on FZD4, LRP5, NDP, and TSPAN12 mutations for definitive diagnosis of FEVR (Evidence: Moderate) 4.
Regular Ophthalmological Monitoring: Schedule frequent ophthalmological evaluations to detect and manage complications early (Evidence: Expert opinion) 5.
Surgical Management for Complications: Employ surgical interventions for severe complications such as retinal detachment and vitreous hemorrhage (Evidence: Moderate) 5.References
1 López-Cañizares A, Lazzarini TA, Mendoza C, Berrocal AM. Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP). Ophthalmic genetics 2023. link
2 Lu L, He K, Ni Y, Yu Z, Mao A. Exudative epidermitis of piglets caused by non-toxigenic Staphylococcus sciuri. Veterinary microbiology 2017. link
3 Gandhi JK, Tollefson TT, Telander DG. Falciform macular folds and chromosome 22q11.2: evidence in support of a locus for familial exudative vitreoretinopathy (FEVR). Ophthalmic genetics 2014. link
4 Robitaille JM, Zheng B, Wallace K, Beis MJ, Tatlidil C, Yang J et al.. The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease. The British journal of ophthalmology 2011. link
5 Bergen RL, Glassman R. Familial exudative vitreoretinopathy. Annals of ophthalmology 1983. link