title: Genetics of corneal endothelial dystrophies.
abstract: The corneal endothelium maintains the level of hydration in the cornea. Dysfunction of the endothelium results in excess accumulation of water in the corneal stroma, leading to swelling of the stroma and loss of transparency. There are four different corneal endothelial dystrophies that are hereditary, progressive, non-inflammatory disorders involving dysfunction of the corneal endothelium. Each of the endothelial dystrophies is genetically heterogeneous with different modes of transmission and/or different genes involved in each subtype. Genes responsible for disease have been identified for only a subset of corneal endothelial dystrophies. Knowledge of genes involved and their function in the corneal endothelium can aid understanding the pathogenesis of the disorder as well as reveal pathways that are important for normal functioning of the endothelium.
authors.affiliation: Kallam Anji Reddy Molecular Genetics Laboratory, Prof Brien Holden Eye Research Centre, L. V. Prasad Eye Institute, Hyderabad, India. chitra@lvpei.org
authors.forename: Chitra
authors.initials: C
authors.lastname: Kannabiran
mesh_terms: D002874:Chromosome Mapping; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D004728:Endothelium, Corneal / Q000473:pathology*; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D015894:Genome, Human; D006801:Humans; D010641:Phenotype