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Corneal opacities in Gaucher disease
A Guemes1, G S Kosmorsky, D S Moodie
1Eye Institute, The Cleveland Clinic Foundation, Ohio, USA.
American Journal of Ophthalmology
|December 22, 1998
Summary
Corneal opacities are a key sign in a Gaucher disease variant. This specific variant is linked to the D409H mutation and calcific heart disease.
Area of Science:
- Ophthalmology
- Genetics
- Rare Diseases
Background:
- Gaucher disease is a lysosomal storage disorder.
- A rare variant of Gaucher disease presents with distinct ocular manifestations.
Observation:
- An 18-year-old male presented with diffuse, well-defined corneal opacities.
- Opacities were located in the posterior two-thirds of the corneal stroma in both eyes.
- The patient also had calcific valvular heart disease.
Findings:
- Enzymatic and genetic studies confirmed Gaucher disease.
- Molecular analysis revealed homozygosity for the D409H mutation in the glucocerebrosidase gene.
- Corneal opacities were identified as a distinguishing feature.
Implications:
- Corneal opacities may serve as a diagnostic marker for this Gaucher disease variant.
- Understanding the genotype-phenotype correlation aids in diagnosing and managing rare genetic disorders.
- This finding highlights the importance of comprehensive ophthalmic evaluation in patients with Gaucher disease and cardiac abnormalities.