Nephropathic cystinosis is an autosomal, recessively inherited storage disease in which nonprotein cystine accumulates within cellular lysosomes due to a defect in lysosomal cystine transport. Ocular manifestations include photophobia crystal deposits in cornea, conjunctiva iris and depigmentation of the retina. Systemic complications include the Fanconi syndrome, and renal failure. Eight years ago cysteamine, a free thiol which depletes cystine from cells, was introduced in the therapy of cystinotic patients. Although patients had improved growth and stabilized renal function, there was no noticeable effect on the accumulation of corneal crystals. Recent studies showed that corneal cells in tissue culture are readily depleted of cystine by the introduction of cysteamine, making feasible the use of topical ophthalmic cysteamine to circumvent the humoral route. After appropriate animal studies to test for complications which revealed none, we have begun a double-masked clinical trial to test the efficacy of topical cysteamine in humans. Five patients have thus far been enrolled, outcome of the study awaits further observation.

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Intramural Research (Z01)
Project #
1Z01EY000211-01
Application #
3965383
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
1
Fiscal Year
1986
Total Cost
Indirect Cost
Name
U.S. National Eye Institute
Department
Type
DUNS #
City
State
Country
United States
Zip Code