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The ocular manifestations in Fabry's disease
Archives of Ophthalmology (Chicago, Ill. : 1960)
|April 1, 1979
Summary
Ocular findings in Fabry disease, including corneal whorls and lens deposits, are unique diagnostic signs. While usually not vision-impairing, severe cases can cause significant visual loss.
Area of Science:
- Ophthalmology
- Genetics
- Rare Diseases
Background:
- Fabry disease is a rare genetic disorder affecting multiple organs.
- Ocular manifestations are key diagnostic indicators of Fabry disease.
- Understanding these signs aids in early diagnosis and management.
Purpose of the Study:
- To document and analyze the spectrum of ocular manifestations in patients with Fabry disease.
- To compare the prevalence and severity of ocular findings between hemizygous males and heterozygous females.
- To assess the diagnostic value of ocular signs in Fabry disease.
Main Methods:
- Retrospective analysis of ocular findings in 37 hemizygous males and 25 heterozygous females with Fabry disease.
- Detailed examination of corneal, lenticular, conjunctival, and retinal vasculature.
- Correlation of ocular findings with disease status and genotype.
Main Results:
- Whorl-like corneal deposits were nearly universal, more severe in heterozygotes.
- Anterior capsular lens deposits (propeller-shaped) occurred in 33% of hemizygotes, absent in heterozygotes.
- Posterior capsular opacity observed in 37% of hemizygotes and 14% of heterozygotes.
- Conjunctival aneurysms and retinal vessel tortuosity were more frequent and severe in hemizygotes.
- Two hemizygotes experienced severe vision loss due to central artery occlusion.
Conclusions:
- Ocular manifestations of Fabry disease are distinctive and diagnostically significant.
- Corneal and lenticular opacities show varying prevalence and severity between sexes.
- While typically non-vision-impairing, severe vascular events can lead to vision loss.
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