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Fundus Photography and Fluorescein Angiography of Familial Exudative Vitreoretinopathy

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Title: Fundus Photography and Fluorescein Angiography of Familial Exudative Vitreoretinopathy

Author: Kenneth Price, BS

Photographer: Unknown

Date: 7/29/2016

Image or video:

Keywords/Main Subjects: Familial Exudative Vitreoretinopathy; FEVR

Secondary CORE Category: Retina and Vitreous / Congenital and Developmental Abnormalities

Diagnosis: Familial Exudative Vitreoretinopathy

Description of Image: Familial Exudative Vitreoretinopathy (FEVR) is a rare inherited disorder of retinal blood vessel development which leads to incomplete vascularization of the peripheral retina. Inheritance can be autosomal dominant, recessive, X-linked, or sporadic.  The disease ranges from asymptomatic to severe. If there is sufficient retinal ischemia secondary vascular proliferation can lead to fibrosis, traction, retinal detachment and retinal dysplasia. FEVR needs to be distinguished from ROP due to their similar appearances.  The diagnosis of FEVR is made in patients who were born at full term or otherwise have findings inconsistent with ROP and can further be ruled in by genetic testing, specifically testing for FZD4, LRP5, TSPAN12, NDP and FZ mutations among others. Many patients diagnosed with FEVR retain vision of 20/40 or better. Macular ectopia, retinal folds, and retinal detachments are the main causes for visual loss.  A fundamental component of diagnosis and treatment is identifying peripheral retinal areas of non-perfusion by performing fluorescein angiography, often under anesthesia due to this disease most commonly presenting in the pediatric age range.  Wide-field angiography has become particularly useful in this disease.

This fundus photo and fluorescein angiography photo are from a 4 year old female who was diagnosed with FEVR at an early age after her parents began to notice symptoms of vision loss. On exam, she was found to have an avascular retina peripherally and was followed until she developed neovascularization and associated fibrosis. Fundus photography and fluorescein angiography here show a broad linear macular fold with associated epiretinal membrane and peripheral avascular retina with areas of photocoagulation. She was treated with peripheral photocoagulation, vitrectomies to release vitreoretinal traction, and a scleral buckle for retinal detachment.

Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies. Eye (2015) 29, 1–14.

John VJ, McClintic JI, Hess DJ, Berrocal AM. Retinopathy of Prematurity Versus Familial Exudative Vitreoretinopathy: Report on Clinical and Angiographic Findings. Ophthalmic Surg Lasers Imaging Retina. 2016 Jan;47(1):14-9.

Faculty Approval by: M.E. Hartnett; Griffin Jardine

Disclosure (Financial or other): None

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