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A case of corneal cystinosis in a patient with rickets and chronic renal failure.

ABSTRACT: A 22-year-old man diagnosed with nephropathic cystinosis at the age of 4 years was found to have progressive bilateral corneal crystal deposition. He presented with severe photophobia and decreased visual acuity. Ocular cystinosis was diagnosed on observing the typical crystals. Optical coherence tomography showed multiple areas of stromal hyperreflectivity due to crystal deposits within the corneal stroma. Ex vivo transmission electron microscopy of the cornea showed pathognomonic crystal deposits in corneal stromal keratocytes. Using polymerase chain reaction sequencing of the entire coding region, we identified five gene mutations, including two unreported mutations.

SUBMITTER: Won JY

PROVIDER: S-EPMC4728978 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature

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A case of corneal cystinosis in a patient with rickets and chronic renal failure.

Won Jae Yon JY Hwang Hyung Bin HB Chung Sung Kun SK

Indian journal of ophthalmology 20151001 10

A 22-year-old man diagnosed with nephropathic cystinosis at the age of 4 years was found to have progressive bilateral corneal crystal deposition. He presented with severe photophobia and decreased visual acuity. Ocular cystinosis was diagnosed on observing the typical crystals. Optical coherence tomography showed multiple areas of stromal hyperreflectivity due to crystal deposits within the corneal stroma. Ex vivo transmission electron microscopy of the cornea showed pathognomonic crystal depos ...[more]

PMID: 26655004

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