title: 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.
authors.forename: Jae Yon
authors.initials: JY
authors.lastname: Won
authors.forename: Hyung Bin
authors.initials: HB
authors.lastname: Hwang
authors.affiliation: Department of Ophthalmology and Visual Science, St. Paul's Hospital, College of Medicine, The Catholic University of Korea, South Korea.
authors.forename: Sung Kun
authors.initials: SK
authors.lastname: Chung
mesh_terms: D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics; D003316:Corneal Diseases / Q000175:diagnosis* / Q000235:genetics; D003319:Corneal Stroma / Q000648:ultrastructure*; D003554:Cystinosis / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D007676:Kidney Failure, Chronic / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D046529:Microscopy, Electron, Transmission; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012279:Rickets / Q000175:diagnosis* / Q000235:genetics; D041623:Tomography, Optical Coherence; D014786:Vision Disorders / Q000175:diagnosis / Q000235:genetics; D014792:Visual Acuity; D055815:Young Adult
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human