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Lowe's syndrome

R C Tripathi, G W Cibis, B J Tripathi

    Transactions of the Ophthalmological Societies of the United Kingdom
    |April 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

    Ocular abnormalities in Lowe syndrome, a rare genetic disorder, involve lens, iris, and retinal changes. These congenital defects may stem from an inherited biochemical defect and abnormal aqueous humor.

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    Area of Science:

    • Ophthalmology
    • Genetics
    • Pathology

    Background:

    • Lowe syndrome, also known as oculo-cerebro-renal syndrome, is a rare genetic disorder with multisystemic manifestations.
    • Ocular abnormalities are a key feature, necessitating detailed histopathological examination.

    Observation:

    • Histopathological analysis of four eyes from two male patients revealed significant ocular anomalies.
    • Key findings included cataractous lenses with peculiar capsular and epithelial changes, anterior chamber angle abnormalities, iris muscle hypoplasia, and retinal cystoid changes.

    Findings:

    • Aberrant collagenous tissue formation, vitreous condensation, corneal keloids, hyalinized retinal vessels, and gliosis were also noted.
    • These congenital ocular defects are hypothesized to result from an unidentified inherited enzymatic or biochemical defect.

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  • An abnormal aqueous humor environment is suggested to contribute to the progression of these ocular abnormalities.

    • Implications:

    • Understanding the histopathology of ocular defects in Lowe syndrome is crucial for diagnosis and management.
    • Further research into the underlying biochemical defects may reveal therapeutic targets.
    • The study highlights the complex interplay between genetic factors and the ocular environment in Lowe syndrome pathogenesis.