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Spatial and temporal sequence of corneal crystal deposition in nephropathic cystinosis
R B Melles1, J A Schneider, N A Rao
1Department of Ophthalmology, University of California, San Diego, La Jolla 92039.
Insights
Infantile nephropathic cystinosis causes cystine crystals to deposit in the cornea. These deposits start anteriorly and progress posteriorly, advancing faster in the periphery with age.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Infantile nephropathic cystinosis is a rare genetic disorder.
- Cystine crystal deposition affects multiple organs, including the cornea.
Purpose of the Study:
- To characterize the pattern and progression of corneal cystine crystal deposition in infantile nephropathic cystinosis.
- To correlate clinical observations with ultrastructural findings.
Main Methods:
- Clinical examination of 15 patients with infantile nephropathic cystinosis.
- Ultrastructural analysis of a corneal button from a transplant patient.
Main Results:
- Anterior corneal cystine crystal deposition was observed early in life.
- Crystal deposition progressed posteriorly and more rapidly in the corneal periphery with age.
- Ultrastructural analysis confirmed widespread central stromal crystal deposition.
Conclusions:
- Corneal cystine crystal deposition is a progressive process in infantile nephropathic cystinosis.
- Understanding deposition patterns aids in managing ocular manifestations.
Abstract:
We studied 15 patients with infantile nephropathic cystinosis. We found that anterior corneal cystine crystal deposition began early in life and proceeded posteriorly as the patient aged; deposition advanced more rapidly in the periphery. Ultrastructural analysis of a corneal button obtained from a 20-year-old patient undergoing corneal transplantation confirmed our clinical observations that crystals were deposited throughout the entire central stroma.