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Ectopia lentis et pupillae.

N K Gupta, A V Ayra, R Azad

    Indian Journal of Ophthalmology
    |January 1, 1989
    PubMed
    Summary
    This summary is machine-generated.

    This report details a rare congenital bilateral ectopia lentis et pupillae (ELEP) case in a 32-year-old female with vision loss. New associations with optic nerve hypoplasia and myelinated nerve fibers were observed.

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    Area of Science:

    • Ophthalmology
    • Medical Genetics

    Background:

    • Congenital bilateral ectopia lentis et pupillae (ELEP) is a rare condition characterized by displaced lenses and pupils.
    • The exact cause of ELEP is not fully understood, with ongoing debate regarding its origins.

    Observation:

    • A 32-year-old female presented with decreased vision in both eyes due to ELEP.
    • This case uniquely exhibited associated optic nerve hypoplasia and myelinated nerve fibers, previously unreported in ELEP.
    • Additional findings included pupillary dilator muscle hypoplasia, annular endotheliopathy, and persistent pupillary membrane.

    Findings:

    • The co-occurrence of optic nerve hypoplasia and myelinated nerve fibers with ELEP represents a novel clinical observation.
    • These combined abnormalities suggest a potential syndromic presentation of ELEP.

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    Implications:

    • The findings support a combined neuroectodermal and mesodermal developmental origin for ELEP.
    • Further research into the genetic and developmental pathways underlying ELEP is warranted.
    • This case expands the known spectrum of ocular and neurological abnormalities associated with ELEP.