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Related Experiment Videos

Ocular neurofibromatosis.

S Brownstein, J M Little

    Ophthalmology
    |December 1, 1983
    PubMed
    Summary
    This summary is machine-generated.

    Congenital glaucoma in a child with neurofibromatosis was linked to a diffuse neurofibroma of the ciliary body and choroid. Histopathology revealed key features contributing to the severe ocular hypertension.

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    Area of Science:

    • Ophthalmology
    • Medical Genetics
    • Pediatric Oncology

    Background:

    • Unilateral congenital glaucoma presents a significant challenge in pediatric eye care.
    • Neurofibromatosis is a genetic disorder characterized by tumor development in nerve tissue.

    Observation:

    • A pediatric patient presented with refractory unilateral congenital glaucoma.
    • Diagnosis of neurofibromatosis was confirmed by clinical signs including eyelid plexiform neuroma and café au lait spots.
    • The affected eye was enucleated due to intractable intraocular pressure.

    Findings:

    • Histopathology of the enucleated globe revealed a diffuse neurofibroma involving the ciliary body and choroid.
    • Associated findings included peripheral anterior synechiae, total angle closure, and iris endothelialization, all contributing to glaucoma.

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  • Additional ocular anomalies observed were melanocytic iris hamartomas, anterior subcapsular cataract, and ovoid bodies within the choroidal neurofibroma.

    • Implications:

    • This case highlights the complex interplay between neurofibromatosis and severe pediatric glaucoma.
    • Understanding the histopathologic features is crucial for managing ocular manifestations in neurofibromatosis.
    • Further research into the pathogenesis of glaucoma associated with ocular neurofibromas is warranted.