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Please note that we are a research service provider, not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.

Familial Exudative Vitreoretinopathy (FEVR)

Familial exudative vitreoretinopathy (FEVR) is a genetic condition that affects the retina. At Protheragen, we offer comprehensive diagnostic and therapeutic development services for FEVR. Our team of experts leverages cutting-edge technologies and rigorous scientific methodologies to develop innovative solutions for this devastating disease.

Overview of Familial Exudative Vitreoretinopathy (FEVR)

Familial Exudative Vitreoretinopathy (FEVR) is an inherited vitreoretinopathy that involves abnormal retinal vascular development. First described in 1969, this condition features an avascular peripheral retina, which may give rise to serious complications, including neovascularization, exudation, hemorrhage, and retinal detachment with profound vision implications. FEVR is marked by a diverse mode of inheritance and expression, with variation in its presentation and severity, including within affected families. Distinguishing FEVR from other pediatric retinal disorders, including retinopathy of prematurity (ROP), Norrie disease, Coats disease, and persistent fetal vasculature, is very important.

Analysis of multiple gene mutations in different sexes.

Fig. 1 Different gender distribution in varied gene mutations. (Wang X., et al., 2022)

Pathogenesis of Familial Exudative Vitreoretinopathy (FEVR)

The Wnt signaling pathway that oversees the processes of cell survival, differentiation, proliferation, and retinal cell migration contains the central defect responsible for the pathogenesis of FEVR. Multiple genes such as FZD4, NDP, LRP5, TSPAN12, ZNF408, and KIF11 have been connected with FEVR. These genes are involved in the Wnt signaling pathway which controls the proper development of the retinal vasculature. Changes in these genes result in inactivation of β-catenin, a significant transcription factor, causing improper development of the retinal vasculature. The genes’ regulatory receptors and proteins whose absence or dysfunction alters β-catenin signaling cause β-catenin to become degraded, blocking autoregulation of its target genes which is what happens in healthy tissue.

Diagnostics Development for Familial Exudative Vitreoretinopathy (FEVR)

Wide-Field Fluorescein Angiography (FA)
The principal method and the most effective approach for identifying and observing FEVR is Wide-field fluorescein angiography (FA). Even the faintest vascular changes, for example, peripheral avascular zones, vitreoretinal adhesions, venovenous anastomoses, and supernumerary vascular branching, can be diagnosed using FA.

Optical Coherence Tomography (OCT)
FEVR's microstructural features, such as posterior hyaloidal organization, vitreomacular traction, macular edema, and disruption of the ellipsoid zone, can be identified using OCT. OCT is critical in ascertaining the level or severity of the disease because it provides detailed images of the retinal layers, which in turn aid in decision making for therapeutics.

Genetic Testing
To confirm FEVR and the resulting gene mutations, as well as FEVR's diagnosis, genetic testing is mandatory. For instance, in FZD4, mutations correspond to dominantly inherited (autosomal) FEVR, while LRP5 mutations can give rise to dominantly inherited (autosomal) and recessive variants of the disorder.

Therapeutics Development for Familial Exudative Vitreoretinopathy (FEVR)

Bevacizumab and ranibizumab are anti-VEGF agents that have become useful in the treatment of Familial Exudative Vitreoretinopathy (FEVR). These agents work by selectively blocking the activity of vascular endothelial growth factor (VEGF), one of the most important signaling pathways in the abnormal vascular proliferation (vasculopathy) that is characteristically seen in FEVR. With the decrease of VEGF activity, these drugs greatly reduce exudation and neovascularization, which stabilizes the retinal vasculature and stops further damage, like bleeding and detaching of the retina.

Our Services

Protheragen extends the full scope of services associated with diagnostic and therapeutic development for Familial Exudative Vitreoretinopathy (FEVR). Our range of preclinical research services focuses on the creation and assessment of novel therapies, including anti-VEGF therapies, with the utmost attention to safety and efficacy.

Diagnostics Development

Therapeutic Development

Disease Models

FZD4 Knockout Mice
LRP5 Knockout Mice
ZNF408 Knockdown Zebrafish
KIF11 Knockdown Zebrafish
Customized Model Development

Protheragen recognizes the unique needs of each client and offers customized services tailored to specific research and development goals. Our team of experts works closely with clients to design and implement personalized strategies for the development of diagnostics and therapeutics for FEVR. If you are interested in our services, please feel free to contact us.

References

Wang, Xiaona, et al. "Genotype-phenotype associations in familial exudative vitreoretinopathy: a systematic review and meta-analysis on more than 3200 individuals." PLoS One 17.7 (2022): e0271326.
Tauqeer, Zujaja, and Yoshihiro Yonekawa. "Familial exudative vitreoretinopathy: pathophysiology, diagnosis, and management." Asia-Pacific journal of ophthalmology 7.3 (2018): 176-182.