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Iris transillumination and variable expression in ectopia lentis et pupillae

J A Luebbers, M F Goldberg, R Herbst

    American Journal of Ophthalmology
    |May 1, 1977
    PubMed
    Summary
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    Ectopia lentis et pupillae is a rare genetic syndrome. Some simple lens ectopia cases may be an incomplete form of this syndrome, with shared iris transillumination.

    Area of Science:

    • Ophthalmology
    • Genetics
    • Medical Science

    Background:

    • Ectopia lentis et pupillae is a rare genetic disorder.
    • Understanding its variations is crucial for diagnosis and management.

    Observation:

    • Six children across three families presented with ectopia lentis et pupillae variations.
    • Affected siblings showed a spectrum from simple lens ectopia to full ectopia lentis et pupillae.

    Findings:

    • Simple lens ectopia may represent an incomplete expression of ectopia lentis et pupillae.
    • Striking iris periphery transillumination was observed in both simple lens ectopia and ectopia lentis et pupillae patients.
    • Associated anterior segment abnormalities included microphakia and cataract.

    Implications:

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    • This suggests a potential spectrum of a single genetic syndrome.
    • Iris transillumination is a key diagnostic marker.
    • Further research into genetic underpinnings is warranted.