[Fabry's disease in ophthalmology (author's transl)]. / La maladie de Fabry et ses manifestations ophtalmologiques.

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.