Original Article

Ocular Manifestations of de Toni- Fanconi Syndrome with Cystine Storage Disease

Authors: MILTON BONIUK M.D., L LEIGHTON HILL M.D.

Abstract

The ophthalmologic examination may be exceedingly important in the presence of the de Toni-Fanconi syndrome since the ophthalmologist may establish that it is, or is not the result of cystinosis. It appears that the slit lamp examination and conjunctival biopsy is more reliable than bone marrow studies or renal or lymph node biopsies in the confirmation of an etiologic diagnosis.

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References