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Hereditary hemorrhagic macular dystrophy.

R E Carr, K G Noble, I Nasaduke

    American Journal of Ophthalmology
    |March 1, 1978
    PubMed
    Summary
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    Hereditary hemorrhagic macular dystrophy causes vision loss starting in the third decade. Early photocoagulation of subretinal neovascularization may preserve vision, preventing legal blindness.

    Area of Science:

    • Ophthalmology
    • Medical Genetics

    Background:

    • Hereditary hemorrhagic macular dystrophy (HHMD) is a rare genetic condition.
    • It presents with progressive vision loss and characteristic fundus findings.

    Purpose of the Study:

    • To describe the clinical features and outcomes of HHMD in a family.
    • To evaluate the efficacy of photocoagulation for subretinal neovascularization in HHMD.

    Main Methods:

    • Case series of four affected brothers.
    • Longitudinal follow-up (2-12 years).
    • Fundus examinations and visual function tests.

    Main Results:

    • Patients developed decreased visual acuity in the third decade, progressing to bilateral disease.

    Related Experiment Videos

  • Fundus findings included hemorrhagic exudative maculopathy, pigmentary changes, and glial scarring.
  • Subretinal neovascularization was present in early stages; photocoagulation was successful in one case, unsuccessful in another.
  • Disease stabilized in the cicatricial phase.

    • Conclusions:

    • HHMD presents with distinct macular changes and subretinal neovascularization.
    • Early intervention with photocoagulation may be beneficial.
    • Untreated HHMD can lead to legal blindness.