Update on the genetics of corneal endothelial dystrophies

Chitra Kannabiran, Sunita Chaurasia, Muralidhar Ramappa, Venkateswara Vinod Mootha

Research output: Contribution to journalReview articlepeer-review


Corneal endothelial dystrophies are a heterogeneous group of diseases with different modes of inheritance and genetic basis for each dystrophy. The genes associated with these diseases encode transcription factors, structural components of the stroma and Descemet membrane, cell transport proteins, and others. Congenital hereditary endothelial dystrophy (CHED) is associated with mutations in two genes, OVOL2 and SLC4A11, for dominant and recessive forms of CHED, respectively. Mutations in three genes are known to cause posterior polymorphous corneal dystrophy (PPCD). They are OVOL2 (PPCD1), ZEB1 (PPCD3), and GRHL1 (PPCD4). The PPCD2 locus involving the collagen gene COL8A2 on chromosome 1 is disputed due to insufficient evidence. Mutations in the COL8A2 gene are associated with early-onset Fuchs' endothelial corneal dystrophy (FECD). Several genes have been associated with the more common, late-onset FECD. Alterations in each of these genes occur in a fraction of patients, and the most prevalent genetic alteration in FECD patients across the world is a triplet repeat expansion in the TCF4 gene. Knowledge of the genetics of corneal endothelial dystrophies has considerably advanced within the last decade and has contributed to better diagnosis of these dystrophies as well as opened up the possibility of novel therapeutic approaches based on the molecular mechanisms involved. The functions of genes identified to date provide insights into the pathogenic mechanisms involved in each disorder.

Original languageEnglish (US)
Pages (from-to)2239-2248
Number of pages10
JournalIndian Journal of Ophthalmology
Issue number7
StatePublished - Jul 2022


  • CHED
  • FECD
  • PPCD
  • corneal endothelium
  • endothelial dystrophy
  • genetics
  • genotype
  • phenotype

ASJC Scopus subject areas

  • Ophthalmology


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