slit-lamp photographs of three-year-old patient nephropathic cystenosis before (left) , after (right) cysteamine eyedrop therapy. drops dissolve crystals in cornea.
by age two, cystine crystals may present in cornea. buildup of these crystals in eye causes increased sensitivity light (photophobia). without treatment, children cystinosis experience complete kidney failure age ten. other signs , symptoms may occur in untreated patients include muscle deterioration, blindness, inability swallow, impaired sweating, decreased hair , skin pigmentation, diabetes, , thyroid , nervous system problems.
the signs , symptoms of intermediate cystinosis same nephropathic cystinosis, occur @ later age. intermediate cystinosis typically begins affect individuals around age twelve fifteen. malfunctioning kidneys , corneal crystals main initial features of disorder. if intermediate cystinosis left untreated, complete kidney failure occur, not until late teens mid twenties.
people non-nephropathic or ocular cystinosis not experience growth impairment or kidney malfunction. symptom photophobia due cystine crystals in cornea.
research cystinosis being conducted @ university of california, san diego, scripps research institute, university of california, irvine, baylor college of medicine, university of michigan, tulane university school of medicine, , national institutes of de duve institute, belgium, nih in bethesda, maryland, @ robert gordon university in aberdeen, scotland, university of sunderland, uk, university college dublin, ireland, university college cork, ireland , necker hospital in paris.
crystal morphology , identification
cystine crystals hexagonal in shape , colorless. not found in alkaline urine due high solubility. colorless crystals can difficult distinguish uric acid crystals hexagonal. under polarized examination, crystals birefringent polarization color interference.
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