title: [Cornea verticillata - a clinical marker of Fabry disease: case report].
abstract: Fabry's disease is a rare X-linked lysosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of alpha-galactosidase A activity. The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include angiokeratomas, acroparesthesia, cornea verticillata, cardiac and kidney involvement, cerebrovascular manifestations. A family with Fabry's disease including 2 female patients and 3 male patients is reported. The patients were submitted to complete medical history, ophthalmological examination and alpha-galactosidase activity test. Cornea verticillata was a constant finding in all patients. This demonstrates the important role of the ophtalmological examination for the diagnosis of Fabry's disease since the eye findings are so characteristic of the disease.
authors: Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil. cordeiro.cy@gmail.com
authors: Cynthia Azeredo
authors: CA
authors: Cordeiro
authors: Fernando
authors: F
authors: Oréfice
authors: Euler Pace
authors: EP
authors: Lasmar
authors: Helena Hollanda
authors: HH
authors: Santos
authors: Eugênia Ribeiro
authors: ER
authors: Valadares
mesh_terms: D000328:Adult; D000368:Aged; D015415:Biomarkers; D003318:Corneal Opacity / Q000201:enzymology* / Q000235:genetics; D003941:Diagnostic Techniques, Ophthalmological; D000795:Fabry Disease / Q000201:enzymology* / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D000519:alpha-Galactosidase / Q000097:blood*
chemical_list: D015415:Biomarkers; D000519:alpha-Galactosidase