title: Macular corneal dystrophy and associated corneal thinning.
abstract: OBJECTIVE
  To identify the molecular genetic cause of macular corneal dystrophy (MCD) in four probands, and characterize phenotypic similarities between MCD and keratoconus.
  
  
  METHODS
  We performed ophthalmological examination, Scheimpflug imaging (Pentacam, Oculus Inc.), histopathological examination of excised corneal buttons, and direct sequencing of the CHST6 coding region.
  
  
  RESULTS
  Pentacam measurements were taken in six eyes of three probands. All showed diffuse corneal thinning with paracentral steepening of the anterior corneal surface that was graded as keratoconus by the integrated software, but without associated ectasia of the posterior corneal surface or regional thinning. Homozygous or compound heterozygous CHST6 mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys).
  
  
  CONCLUSIONS
  Localized elevation of the anterior corneal curvature can occur in MCD in the absence of other features of keratoconus. The identification of a further two Czech probands with the compound allele c.[484C>G; 599T>G] supports the enrichment of this allele in the study population.
authors: Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
authors: L
authors: L
authors: Dudakova
authors: Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
authors: M
authors: M
authors: Palos
authors: Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
authors: M
authors: M
authors: Svobodova
authors: Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
authors: J
authors: J
authors: Bydzovsky
authors: Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
authors: L
authors: L
authors: Huna
authors: Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
authors: K
authors: K
authors: Jirsova
authors: Department of Ocular Biology and Therapeutics, UCL Institute of Ophthalmology, London, UK.
authors: A J
authors: AJ
authors: Hardcastle
authors: 1] Department of Ocular Biology and Therapeutics, UCL Institute of Ophthalmology, London, UK [2] Corneal Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
authors: S J
authors: SJ
authors: Tuft
authors: 1] Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic [2] Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
authors: P
authors: P
authors: Liskova
mesh_terms: D000293:Adolescent; D000328:Adult; D003315:Cornea / Q000473:pathology*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D063171:Corneal Pachymetry; D019781:Corneal Topography; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009929:Organ Size; D015238:Sulfotransferases / Q000235:genetics*; D000097811:Carbohydrate Sulfotransferases
chemical_list: D015238:Sulfotransferases; D000097811:Carbohydrate Sulfotransferases