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Article
May 25, 1957

CYSTINOSIS IN AN ADULT

Author Affiliations

Boston

From the Howe Laboratory of Ophthalmology, Harvard Medical School, and the Massachusetts Eye and Ear Infirmary.

JAMA. 1957;164(4):394-396. doi:10.1001/jama.1957.02980040034009
Abstract

• In contrast to the disease in children, which is usually fatal, cystinosis (deposits of cystine crystals in tissues of the body) in the two reported instances occurring in adults was a relatively benign condition. This condition, sometimes called Lignac-Fanconi syndrome, should not be confused with benign cystinuria of adults, in which the cystine level in the urine is elevated but there are no crystals in tissues. In the case reported, cystine crystals were discovered in the cornea and conjunctiva during a routine examination.

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