Article
Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.
Molecular genetics and metabolism - 1 Jan 2000
Gahl W A, Kuehl E M, Iwata F, Lindblad A, Kaiser-Kupfer M I
Abstract excerpt
Although renal disease is the most prominent feature of the lysosomal storage disease cystinosis, corneal cystine crystal formation remains a major complication, leading to photophobia, corneal erosions, and keratopathies. Moreover, the extent of corneal crystal accumulation reflects the course and severity of the disease itself, and the cornea is accessible to direct examination. Therefore, we employed a scoring...
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