title: Corneal manifestations and in vivo confocal microscopy of Gaucher disease.
abstract: OBJECTIVE
  To report corneal abnormalities and confocal microscopy findings in a patient with a variant of Gaucher disease (GD).
  
  
  METHODS
  Case report with slit-lamp photography, confocal microscopy, and molecular analysis of the glucocerebrosidase gene.
  
  
  RESULTS
  Ophthalmic evaluation in a 57-year-old white patient demonstrated corneal opacities scattered throughout the cornea. Confocal microscopy revealed a completely distorted stromal architecture. The anterior part showed keratocytes with an abnormal morphology intermingled with minute white dots. In the posterior part, normal keratocytes were virtually absent and replaced by hyperreflective rod-like structures. Analysis of the glucocerebrosidase gene disclosed a heterozygous F216Y/L444P mutation. The patient's old records revealed that these corneal abnormalities were already present at the age of 16 years, almost 15 years before the diagnosis of GD was made. His 2 siblings known with the same disorder and mutations also showed abnormal visual acuity and increased central corneal thickness. The confocal microscopy demonstrated some subclinical abnormalities, but otherwise normal corneas.
  
  
  CONCLUSIONS
  Our patient had an unusual mutation responsible for his GD. Although corneal opacities are virtually unknown in GD, except in the D409H homozygous cardiovascular subtype, this patient had marked corneal stromal abnormalities.
authors: Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
authors: Sofie
authors: S
authors: Geens
authors: Philippe
authors: P
authors: Kestelyn
authors: Ilse
authors: I
authors: Claerhout
mesh_terms: D003318:Corneal Opacity / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D003319:Corneal Stroma / Q000473:pathology*; D056947:Enzyme Replacement Therapy; D005776:Gaucher Disease / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D014786:Vision Disorders / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
chemical_list: D005962:Glucosylceramidase