Exudative Vitreoretinopathy 4 (EVR4)

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OMIM®: ⁵⁷ Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (133780). (601813) (Updated 08-Dec-2022)

MalaCards based summary: Exudative Vitreoretinopathy 4, also known as evr4, is related to exudative vitreoretinopathy 1 and exudative vitreoretinopathy 3. An important gene associated with Exudative Vitreoretinopathy 4 is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Vitamin D receptor pathway and MicroRNAs in cardiomyocyte hypertrophy. Affiliated tissues include retina and bone, and related phenotypes are osteopenia and blindness

UniProtKB/Swiss-Prot: ⁷³ A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.

Disease Ontology: ¹¹ An exudative vitreoretinopathy that has material basis in homozygous, compound heterozygous, or heterozygous mutation in LRP5 on chromosome 11q13.2.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Exudative Vitreoretinopathy 4