Abstract :
PURPOE:
To improve our undertanding of the role of pecific gene on corneal tranparency through a review of linkage to pecific chromoomal loci and the identification of the mutant gene dealing with the corneal dytrophie.
METHOD:
Relevant recent literature on the corneal dytrophie i reviewed.
REULT:
Molecular genetic tudie of the corneal dytrophie ugget that gene on at leat 10 human chromoome are involved in the maintenance of corneal tranparency (chromoome 1, 5, 9, 10, 12, 16, 17, 20, 21, and X). Within the 10 chromoome to which corneal dytrophie have been mapped, pecific genetic mutation in even gene (GN, BIGH3, KRT3, KRT12, M1, GLA, and ARC1) have been identified in 15 corneal dytrophie. ome corneal dytrophie that are conidered ditinct clinicopathologic entitie are actually caued by different mutation in the ame gene. For example, lattice dytrophy type I and IIIA, granular corneal dytrophy type I, II (Avellino dytrophy), and III (Rei-Bückler dytrophy), and Thiel-Behnke corneal dytrophy are the reult of mutation in BIGH3. Mutation in three gene (GN, BIGH3, M1) are aociated with amyloid depoition in the cornea. A gene for keratoconu ha been mapped to chromoome 21, which i noteworthy becaue of the etablihed aociation of keratoconu in Down yndrome (triomy 21).
Abtract
CONCLUION:
Recent genetic tudie on the corneal dytrophie provide inight into ome of thee diorder at a baic molecular level. ome corneal dytrophie that were previouly believed to be ditinct clinicopathologic entitie are cloely related at the molecular level with the different phenotype reulting from ditinct mutation in the ame gene. Thi new knowledge i leading to a revied claification of the corneal dytrophie and to the development of animal model of corneal dytrophie. The latter will lead to a better undertanding of the pathogenei of the diorder and hence to novel therapeutic approache to thoe dytrophie that caue ignificant viual impairment. Reearch of thi nature i only in it infancy.
