Fabry keratopathy: manifestations and changes over time

Area of Science:

• Ophthalmology
• Genetics
• Corneal Diseases

Background:

• Fabry disease is a rare genetic disorder.
• Fabry keratopathy is a hallmark of the disease.
• Understanding its progression is crucial for diagnosis.

Purpose of the Study:

• To observe clinical changes in Fabry keratopathy over time.
• To document variations and unique presentations.
• To investigate differences between corneas, families, and genotypes.

Main Methods:

• Longitudinal study of 10 individuals with classic Fabry disease over 18 months.
• Biomicroscopic imaging and categorization of keratopathies.
• Analysis of changes, variations, and inter-corneal differences.

Main Results:

• Fabry keratopathy showed mild to marked changes over 18 months.
• Diverse whorl patterns, amorphous features, and epithelial haze were observed.
• Significant differences noted between right and left eyes, obscuring family/genotype comparisons.

Conclusions:

• Fabry keratopathy is dynamic and clinically observable.
• Recognizing varied presentations improves Fabry disease detection.
• Corneal epithelium renewal pathways are unique per eye.