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[Endothelial changes in posterior polymorphous corneal dystrophy].

U Weber, H Bernsmeier

    Klinische Monatsblatter Fur Augenheilkunde
    |April 1, 1983
    PubMed
    Summary
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    Posterior polymorphous corneal dystrophy (PPD) exhibits variable expressivity, affecting a 51-year-old male with cataracts and myopia. His son also shows signs of PPD, indicating a potential genetic link.

    Area of Science:

    • Ophthalmology
    • Genetics
    • Corneal Diseases

    Background:

    • Posterior polymorphous dystrophy of the cornea (PPD) is a rare, inherited eye condition.
    • It typically affects the corneal endothelium, leading to vision impairment.
    • Variable expressivity means the condition can manifest differently in affected individuals.

    Observation:

    • A 51-year-old male presented with posterior polymorphous corneal dystrophy (Schlichting type).
    • He also had a cerulean cataract and myopia.
    • His 19-year-old son, who is myopic, also presented with cerulean cataract and corneal endothelial changes.

    Findings:

    • The patient's PPD, attributed to endothelial degeneration, showed significant variability in its presentation.
    • The son's condition suggests a possible hereditary pattern of PPD, cataract, and myopia.

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  • Specular microscopy confirmed endothelial changes in the son, consistent with PPD.
  • Implications:

    • This case highlights the extreme variable expressivity of posterior polymorphous corneal dystrophy.
    • The findings suggest a potential genetic linkage between PPD, cerulean cataracts, and myopia.
    • Further genetic studies may elucidate the underlying mechanisms and inheritance patterns of these related ocular conditions.