title: Absence of cornea verticillata in hemizygotes of a novel mutation in fabry disease.
abstract: OBJECTIVE
  To report a new pedigree of Fabry disease that does not display corneal involvement in hemizygotes.
  
  
  METHODS
  A 44-year-old man presented with proteinuria, chronic obstructive airway disease, hypoacusia, teleangiectasis, and hypohidrosis. A kidney biopsy, genetic study, and ophthalmological examination were conducted. The patient's 66-year-old mother and 45-year-old sister were also investigated.
  
  
  RESULTS
  Glomerular changes associated with Fabry disease were found. The diagnosis was confirmed by genetic study of the alpha-galactosidase A gene. In exon 2, an adenine was changed to a guanine at codon 92. This mutation is called D92G or Asp92Gly. This mutation has not been reported previously. Systemic examination showed cardiac involvement and chronic obstructive airway disease in the mother of the patient. The same mutation was present in the mother and in the sister of the patient. Cornea verticillata was not present in the hemizygous male. The mother and the sister of the patient showed the features of cornea verticillata. The patient and his mother were treated with enzyme replacement therapy using recombinant alpha-galactosidase A.
  
  
  CONCLUSIONS
  We report here a new mutation in Fabry disease. The hemizygote did not show corneal manifestations as opposed to heterozygotes in the described family. The severity of systemic disease was not correlated with the presence of corneal deposits.
authors: Department of Ophthalmology, University Hospital Arnau de Vilanova, Lleida, Spain. vhuerva@mixmail.com
authors: Valentín
authors: V
authors: Huerva
authors: Marisa
authors: M
authors: Martín
authors: Luisa María
authors: LM
authors: Canto
authors: Jordi
authors: J
authors: Yagüe
mesh_terms: D000328:Adult; D000368:Aged; D003318:Corneal Opacity / Q000188:drug therapy / Q000235:genetics*; D005091:Exons / Q000235:genetics; D000795:Fabry Disease / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D011994:Recombinant Proteins / Q000627:therapeutic use; D000519:alpha-Galactosidase / Q000235:genetics* / Q000627:therapeutic use
chemical_list: D011994:Recombinant Proteins; D000519:alpha-Galactosidase