[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.

journal_name

Arq Bras Oftalmol

authors

Cordeiro CA,Oréfice F,Lasmar EP,Santos HH,Valadares ER

doi

10.1590/s0004-27492007000400024

subject

Has Abstract

pub_date

2007-07-01 00:00:00

pages

701-5

issue

4

eissn

0004-2749

issn

1678-2925

pii

S0004-27492007000400024

journal_volume

70

pub_type

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