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Familial exudative vitreoretinopathy

W E Benson

    Transactions of the American Ophthalmological Society
    |January 1, 1995
    PubMed
    Summary
    This summary is machine-generated.

    The prognosis for Familial Exudative Vitreoretinopathy (FEVR) is poor for infants, with later onset offering a guarded outlook. Late complications like retinal detachment and cataract can still occur, even if the condition appears stable.

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    Area of Science:

    • Ophthalmology
    • Medical Genetics

    Background:

    • Familial Exudative Vitreoretinopathy (FEVR) is a genetic disorder affecting retinal vascular development.
    • Understanding the natural history and long-term complications of FEVR is crucial for patient management.

    Observation:

    • This study evaluated 39 patients with FEVR, focusing on age of onset, disease progression, and late complications.
    • Karyotype analysis was performed on 10 patients to investigate chromosomal abnormalities.
    • Follow-up examinations and physician reports were used to gather data on visual acuity and disease progression.

    Findings:

    • Infants with FEVR have a very poor prognosis, with only 2 of 28 achieving significant visual acuity.
    • Later onset correlated with a better prognosis, often with asymmetrical retinal deterioration.

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  • Late complications, including retinal detachment (occurring 6-17 years post-stabilization) and cataract (in 32% of eyes in older patients), were common.
  • Karyotype studies did not reveal gross chromosomal abnormalities related to FEVR.

    • Implications:

    • The long-term prognosis for FEVR patients is guarded, necessitating ongoing monitoring for potential vision-threatening complications.
    • Cataract and retinal detachment can develop years after apparent disease stabilization, highlighting the need for vigilant follow-up.
    • While gross chromosomal abnormalities were ruled out, further genetic investigations are needed to identify specific FEVR-related gene defects.