Macular Corneal Dystrophy: An Updated Review

Curr Eye Res. 2021 Jun;46(6):765-770. doi: 10.1080/02713683.2020.1849727. Epub 2020 Nov 29.


Macular Corneal Dystrophy is an autosomal recessive form of corneal dystrophy due to a mutation in CHST6 gene, which results in abnormal proteoglycan synthesis. There is accumulation of abnormal glycosaminoglycans in the corneal stroma and endothelium. The deposition results in progressive loss of corneal transparency and visual acuity. The histopathology shows characteristic alcian blue positive deposits. Management in the cases with visual loss requires keratoplasty either full thickness or lamellar. The decision about the ideal type of keratoplasty depends on age and pre-operative clinical features. Although prognosis after keratoplasty is good, recurrences can occur. Future research should be targeted towards gene therapy in this condition.

Keywords: CHST6; Macular corneal dystrophy; genetics; glycosaminoglycans; keratoplasty.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cornea / physiopathology
  • Corneal Dystrophies, Hereditary* / diagnosis
  • Corneal Dystrophies, Hereditary* / genetics
  • Corneal Dystrophies, Hereditary* / physiopathology
  • Humans
  • Mutation / genetics
  • Sulfotransferases / genetics
  • Vision Disorders / physiopathology
  • Visual Acuity / physiology


  • Sulfotransferases
  • carbohydrate sulfotransferases

Supplementary concepts

  • Macular dystrophy, corneal type 1