title: Corneal opacities in Gaucher disease.
abstract: OBJECTIVE
  To describe the corneal findings in a variant of Gaucher disease.
  
  
  METHODS
  Case report. In an 18-year-old man, ophthalmic and general clinical evaluation, and enzymatic and molecular genetics studies were performed.
  
  
  RESULTS
  Diffuse, well-defined, small, linear, or dotlike corneal opacities were observed through, out the posterior two thirds of the corneal stroma in both eyes. The patient had calcific valvular heart disease. Enzymatic and ultrastructural studies were consistent with Gaucher disease. Analysis of the glucocerebrosidase gene disclosed homozygosity for a D409H mutation.
  
  
  CONCLUSIONS
  Corneal opacities are a distinguishing ocular feature of the variant of Gaucher disease associated with the D409H mutation and with calcific cardiac disease.
authors.affiliation: Eye Institute, The Cleveland Clinic Foundation, Ohio, USA.
authors.forename: A
authors.initials: A
authors.lastname: Guemes
authors.forename: G S
authors.initials: GS
authors.lastname: Kosmorsky
authors.forename: D S
authors.initials: DS
authors.lastname: Moodie
authors.forename: B
authors.initials: B
authors.lastname: Clark
authors.forename: D
authors.initials: D
authors.lastname: Meisler
authors.forename: E I
authors.initials: EI
authors.lastname: Traboulsi
mesh_terms: D000293:Adolescent; D001021:Aortic Valve / Q000473:pathology / Q000601:surgery; D002114:Calcinosis / Q000150:complications / Q000473:pathology / Q000601:surgery; D003318:Corneal Opacity / Q000150:complications* / Q000473:pathology; D003319:Corneal Stroma / Q000473:pathology; D005776:Gaucher Disease / Q000150:complications* / Q000473:pathology; D006349:Heart Valve Diseases / Q000150:complications / Q000473:pathology / Q000601:surgery; D019918:Heart Valve Prosthesis Implantation; D006801:Humans; D008297:Male; D008943:Mitral Valve / Q000473:pathology / Q000601:surgery