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Familial exudative vitreoretinopathy

W Tasman, J J Augsburger, J A Shields

    Transactions of the American Ophthalmological Society
    |January 1, 1981
    PubMed
    Summary
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    Familial exudative vitreoretinopathy (FEVR) often presents asymptomatically, with most affected individuals showing peripheral retinal non-vascularization. A severe proliferative form can cause retinal dragging and detachment in children.

    Area of Science:

    • Ophthalmology
    • Genetics
    • Pediatric Medicine

    Background:

    • Familial exudative vitreoretinopathy (FEVR) is a genetic disorder affecting retinal vascularization.
    • It can lead to significant visual impairment and retinal detachment.

    Purpose of the Study:

    • To describe the clinical presentation and progression of FEVR in affected families.
    • To differentiate between asymptomatic and severe proliferative forms of FEVR.

    Main Methods:

    • Longitudinal examination and follow-up of fifteen patients across three families with FEVR.
    • Clinical assessment of retinal vascularization, exudation, and detachment.

    Main Results:

    • 73% of patients (11/15) were asymptomatic, exhibiting only peripheral temporal retinal non-vascularization.

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  • A severe proliferative form, resembling acute retrolental fibroplasia, was observed in children (0-10 years).
  • This proliferative form presented with temporal retinal dragging, subretinal exudation, and retinal detachment, often asymmetrically affecting one eye.

    • Conclusions:

    • FEVR exhibits a wide spectrum of clinical severity, from asymptomatic non-vascularization to severe proliferative disease.
    • Early identification and monitoring are crucial for managing FEVR, especially in pediatric cases with proliferative changes.