Article
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.
Pediatric research - 1 Jan 2000
Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer M I, Jaffe R, Thoene J, Schneider J A, Gahl W A
Abstract excerpt
Ocular nonnephropathic cystinosis, a variant of the classic nephropathic type of cystinosis, is an autosomal recessive lysosomal storage disorder characterized by photophobia due to corneal cystine crystals but absence of renal disease. We determined the molecular basis for ocular cystinosis in four individuals. All had mutations in the cystinosis gene CTNS, indicating that ocular cystinosis is allelic with...
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