title: Fabry disease - importance of screening in cornea verticillata: case report.
abstract: Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea verticillata and skin lesions. In late stages, kidney, heart and brain can be involved. This report attempts for importance of cornea verticillata in the diagnosis of Fabry disease in a young patient with pain in the lower limb extremities.
authors.affiliation: Ophthalmology Department, Universidade Federal de São Paulo - UNIFESP - São Paulo (SP), Brazil. fb.yy15@uol.com.br
authors.forename: Fabio Yamasato
authors.initials: FY
authors.lastname: Yonamine
authors.forename: Tiago Eugênio Faria e
authors.initials: TE
authors.lastname: Arantes
authors.forename: Cristina
authors.initials: C
authors.lastname: Muccioli
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000097:blood; D003318:Corneal Opacity / Q000150:complications / Q000175:diagnosis; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D000519:alpha-Galactosidase / Q000097:blood*
chemical_list: D015415:Biomarkers; D000519:alpha-Galactosidase