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Genetics of corneal endothelial dystrophies

Journal of Genetics volume 88, pages 487–494 (2009)Cite this article

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.

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  1. Kallam Anji Reddy Molecular Genetics Laboratory, Prof Brien Holden Eye Research Centre, L. V. Prasad Eye Institute, Banjara Hills, Hyderabad, 500 034, India

    Chitra Kannabiran

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  1. Chitra Kannabiran
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Kannabiran, C. Genetics of corneal endothelial dystrophies. J Genet 88, 487–494 (2009). https://doi.org/10.1007/s12041-009-0067-1

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  • DOI: https://doi.org/10.1007/s12041-009-0067-1

Keywords

  • genetics
  • corneal dystrophy
  • corneal endothelium
  • gene mapping
  • mutations