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Ocular involvement in xeroderma pigmentosum

D E Gaasterland, M M Rodrigues, A N Moshell

    Ophthalmology
    |August 1, 1982
    PubMed
    Summary
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    Xeroderma pigmentosum (XP) patients face severe ocular complications, including vision loss and recurrent cancers. Managing these complex cases requires advanced surgical interventions and highlights challenges in XP eye care.

    Area of Science:

    • Ophthalmology
    • Dermatology
    • Genetics

    Background:

    • Xeroderma pigmentosum (XP) is a rare genetic disorder characterized by extreme sensitivity to ultraviolet radiation.
    • Patients with XP have a significantly increased risk of developing skin and eye cancers.

    Observation:

    • A 37-year-old white female with XP presented with progressive vision loss due to corneal edema and haze.
    • She had a history of multiple eyelid tumors, including squamous cell carcinomas and basal cell carcinomas.
    • Previous corneal grafts were unsuccessful.

    Findings:

    • Recurrent squamous cell carcinomas of the limbus required multiple excisions and ultimately orbital exenteration in both eyes.
    • Invasion into the orbit necessitated orbital exenteration for both eyes.

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  • Corneal graft failure complicated the management of ocular surface disease.

    • Implications:

    • This case underscores the aggressive nature of ocular tumors in XP patients.
    • Effective management of corneal complications and recurrent cancers in XP poses significant challenges.
    • Multidisciplinary approaches are crucial for managing the complex ocular manifestations of xeroderma pigmentosum.