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Familial Exudative Vitreoretinopathy (FEVR)

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Title: Familial Exudative Vitreoretinopathy (FEVR)
Lee Ferguson MD, PhD, Ophthalmology Resident, University of Utah; Charles Calvo, MD and Daniel Churgin, MD, Visiting Instructors, Department of Ophthalmology, University of Utah 
Moran Eye Center Photography
Date: 0
8/25/ 2017
Keywords/Main Subjects:
 Familial exudative vitreoretinopathy; FEVR
Diagnosis: F
amilial exudative vitreoretinopathy
Brief Description:
A hereditary eye disease with variable expressivity associated with incomplete vascularization of the peripheral retina and later abnormal vascular development at the junction of the vascular and avascular retina and/or exudation.  Unlike retinopathy of prematurity, individuals are born full-term and of normal birth weight.
Images or video:

Wide Angle FA

Optos fundus photo of the left eye showing Fibrovascular changes temporally and peripheral laser

Peripheral avascular retina in Stage 1 FEVR

Fluorescein angiogram of right eye showing curvilinear pattern of vasculature

Age & Gender: FEVR can present at any age; however, the mean age of onset is 6 yrs. The disease may continue to progress and manifest a number of abnormalities over life, including epiretinal membranes, tractional, serous or rhegmatogenous retinal detachment. There is no gender predilection with this disease.
Several gene variants within the Wnt signaling pathway can cause FEVR and include FZD4, LRP5, TSPAN12, and NDP. The Wnt signaling pathway is important in cellular and tissue development. Other gene variants have been reported including ZNF408. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked recessive pattern. There is not strong evidence that the severity of disease is affected by genotype and it remains unknown if multiple gene variants are involved in disease severity.
Often symptoms may not be present because the disease manifests in young children or infants. However, poor vision, and strabismus can be present. High myopia, anisometropia amblyopia, epiretinal membrane, traction retinal detachment, retinal dragging or exudation can be found.
The disease mechanism is related to abnormal development of the retinal vasculature leading to increased leakage and exudation of vascular contents.
The treatment of FEVR is based on disease stage. Stage 1 FEVR is characterized by minimal peripheral avascularity and can be observed. Stage 2 FEVR involves neovascularization at the junction of vascular/avascular junction and can have fluorescein leakage noted. Photocoagulation with laser is recommended in the nonperfused area Stage 3 – 5 FEVR have retinal detachment.
Originally published in: Hartnett, Mary Elizabeth. Pediatric retina: medical and surgical approaches. 2nd Ed. Philadelphia: Lippincott Williams & Wilkins, 2005.
Faculty Approval by:
M.E. Hartnett, MD
Identifier: Moran_CORE_24207
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