User: Guest  Login
Title:

Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.

Document type:
Case Reports; Journal Article; Article
Author(s):
Kono, JO; Podskarbi, T; Shin, Y; Lanzl, I
Abstract:
BACKGROUND: Fabry disease is an X-linked genetic disorder involving sphingolipid catabolism, which is caused by lysosomal alpha-galactosidase A deficiency. Ophthalmological findings such as corneal and lens opacities and conjunctival and retinal vessel abnormalities can be the only and/or the first recognizable symptoms, especially in heterozygous females. METHODS: We report on a 34-year-old German woman with cornea verticillata. The alpha-galactosidase A activity was determined in leukocytes us...     »
Journal title abbreviation:
Cornea
Year:
2003
Journal volume:
22
Journal issue:
2
Pages contribution:
175-7
Language:
eng
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/12605057
Print-ISSN:
0277-3740
TUM Institution:
Klinik und Poliklinik für Augenheilkunde
 BibTeX