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  • Title: The value of conjunctival biopsy in childhood cystinosis.
    Author: Cruz-Sánchez FF, Cervós-Navarro J, Rodríguez-Prados S, Lennert T.
    Journal: Histol Histopathol; 1989 Jul; 4(3):305-8. PubMed ID: 2520466.
    Abstract:
    Cystinosis is frequently presented with cystine storage in the cornea and conjunctiva, and the diagnosis can be established by slit-lamp examination. It can also be confirmed by electron microscopy of a conjunctival biopsy. The present paper reports on a 16-month-old boy with Fanconi's syndrome, in whom the slit-lamp examination did not show crystal deposits of cystine in the conjunctiva. The ultrastructural study of the conjunctival biopsy demonstrated polygonal crystals within double membrane-limited organelles located in fibroblasts. Similar crystals were subsequently found in a kidney biopsy. We therefore think that conjunctival biopsy is a valuable diagnostic tool prior to performing renal biopsy, even in cases with negative findings by ophthalmologic examination.
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