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Corneal thickness in nephropathic cystinosis
B Katz1, R B Melles, J A Schneider
1University of California, Department of Ophthalmology, San Diego.
The British Journal of Ophthalmology
|August 1, 1989
Summary
Cystinosis, a rare metabolic disorder, causes cystine crystal buildup in lysosomes. This study found increased corneal thickness in patients with infantile nephropathic cystinosis, suggesting potential subclinical corneal edema.
Area of Science:
- Ophthalmology
- Genetics
- Metabolic Disorders
Background:
- Cystinosis is a rare autosomal recessive metabolic disorder.
- It results from defective lysosomal cystine transport, leading to cystine accumulation.
- Ocular manifestations include corneal crystal deposition without inflammation or functional changes.
Purpose of the Study:
- To measure corneal thickness in patients with infantile nephropathic cystinosis.
- To investigate structural changes in the cornea of a cystinosis patient.
- To explore the relationship between cystinosis and corneal edema.
Main Methods:
- Corneal thickness measurement in nine patients with infantile nephropathic cystinosis.
- Comparison with age-matched controls.
- Electron microscopy analysis of a corneal button from a transplant patient.
Main Results:
- All nine patients exhibited increased corneal thickness compared to controls.
- Electron microscopy revealed structural changes in the corneal epithelium and endothelium.
- Increased corneal thickness may indicate subclinical corneal edema in nephropathic cystinosis.
Conclusions:
- Infantile nephropathic cystinosis is associated with increased corneal thickness.
- Structural corneal changes occur in cystinosis.
- Subclinical corneal edema is a potential finding in this condition.