title: Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.
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 using a fluorescence substrate, and the sequence analysis of the alpha galactosidase A gene was performed with genomic DNA.
  
  
  RESULTS
  The alpha-galactosidase A activity in leukocytes was significantly low (0.24 nmol/min/mg protein; normal range, 0.4-1.2), which is compatible with a heterozygote for Fabry disease. The following sequence analysis revealed a heterozygous transition in position IVS5 + 2 T > C. Transition of thymine (T) to cytosine (C) affects the donor splice motive of exon 5 and most probably leads to an aberrant splicing procedure of the alpha-galactosidase A gene.
  
  
  CONCLUSIONS
  Our case emphasizes the importance of ophthalmological findings in Fabry disease. The subsequent biochemical and molecular analysis provides a secure diagnosis of female carriers of Fabry disease.
authors.affiliation: Eye Clinic, Technical University Munich, Ismaninger Strasse 22, 81675 Munich, Germany. kokk@lrz.tum.de
authors.forename: Jean Oscar Kono
authors.initials: JO
authors.lastname: Kono
authors.forename: Teodor
authors.initials: T
authors.lastname: Podskarbi
authors.forename: Yoon
authors.initials: Y
authors.lastname: Shin
authors.forename: Ines
authors.initials: I
authors.lastname: Lanzl
mesh_terms: D000328:Adult; D003318:Corneal Opacity / Q000201:enzymology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase