[Cornea verticillata - a clinical marker of Fabry disease: case report].
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.
Cordeiro
Cynthia Azeredo
CA
Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil. cordeiro.cy@gmail.com
Oréfice
Fernando
F
Lasmar
Euler Pace
EP
Santos
Helena Hollanda
HH
Valadares
Eugênia Ribeiro
ER
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*
D015415:Biomarkers; D000519:alpha-Galactosidase