title: [Fabry's disease in ophthalmology (author's transl)].
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.
mesh_terms: D000328:Adult; D002648:Child; D003228:Conjunctiva / Q000648:ultrastructure; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000209:etiology; D005128:Eye Diseases / Q000209:etiology*; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008247:Lysosomes / Q000648:ultrastructure; D008297:Male; D013666:Tears / Q000201:enzymology; D000519:alpha-Galactosidase / Q000378:metabolism
chemical_list: D000519:alpha-Galactosidase
vernacular_title: La maladie de Fabry et ses manifestations ophtalmologiques.