Case Reports
[Fabry's disease in ophthalmology (author's transl)]
[Article in
French]
- PMID: 6259247
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Case Reports
[Fabry's disease in ophthalmology (author's transl)]
[Article in
French]
J Fr Ophtalmol.
1980.
Abstract
The authors report a new case of Fabry's disease and emphasize the easiness of diagnosis on simple slit lamp examination of the affected males and conductor females. This disease is transmitted as X linked so that both heterozygotes and hemizygotes show a corneal storage known as cornea verticillata. The clinical features are completed by a conjunctival biopsy and the electron microscopy study shows lamellar bodies in the lysozomes.
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