A new clinical perspective of corneal dystrophies through molecular genetics.
In the past 2 years, significant advances have been made in the genetics of corneal dystrophies. Genetic heterogeneity (one disease condition caused by single mutations in any one of multiple genes) and phenotypic diversity (many disease conditions caused by mutations in a single gene) are common emerging themes. Genetic heterogeneity in Meesmann corneal dystrophy was established with the identification of two causative genes, keratins 3 and 12, that encode cytoskeletal proteins. Conversely, mutations in a single gene, keratoepithelin, were found to cause several distinct corneal dystrophies affecting the Bowman layer and the stroma. We present a novel preliminary classification of corneal dystrophies based on molecular etiology. This classification may be useful in understanding the pathogenesis of corneal dystrophies and in developing new strategies to treat these dystrophies.
Gupta
S K
SK
University of Ottawa Eye Institute, Ontario, Canada.
Hodge
W G
WG
D003315:Cornea / Q000378:metabolism / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D016326:Extracellular Matrix Proteins; D005819:Genetic Markers; D006801:Humans; D007633:Keratins / Q000235:genetics; D008967:Molecular Biology / Q000379:methods*; D009363:Neoplasm Proteins / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation; D016212:Transforming Growth Factor beta / Q000235:genetics; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D005819:Genetic Markers; D007633:Keratins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein