Characterization of Posterior Corneal Dystrophies from Punjab Population
Corneal dystrophies are group of inherited corneal diseases causing changes in the different layers of cornea.
Posterior corneal dystrophies are characterized by abnormalities of the corneal endothelial and descemet membrane. Three
consanguineous families (PKCD001, PKCD004 and PKCD005) affected with CHED2 were enrolled in this study for
identification of known genes of affected families to obtain the molecular basis of Posterior corneal dystrophies. Evidence of
linkage to chromosome 20p was demonstrated with a maximum LOD score of 2.79 with θ=0 using microsatellite markers
D20S889 and D20S181 in PKCD005.
Keywords - Corneal Dystrophy, Descemet membrane, LOD Score, SLC4A11