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Kathryn Colby, M.D., Ph.D.



A Multi-Center Study to Map Novel Genes for Fuchs’ Endothelial Corneal Dystrophy  

 This study, sponsored by the National Eye Institute, is attempting to determine what genes are involved in Fuchs’ dystrophy by examining DNA from families with Fuchs’ dystrophy.


Mitochondria in Fuchs’ Dystrophy 

 This project, which has been active since 1998, investigates the causes of Fuchs’ corneal dystrophy, a progressive dysfunction of the inner lining cells of the cornea (the corneal endothelium) that results in swelling of the cornea, reduced vision and eventually painful blindness. Despite the fact that this condition was described almost 100 years ago, we still do not know its cause. In our ongoing research into this condition, we have shown that the mitochondria (the energy-producing “powerhouses” of all cells) have abnormal appearance in Fuchs’ dystrophy. In collaboration with Dr. Nancy Joyce, an endothelial cell biologist, we have shown that it is possible to grow endothelial cells from Fuchs’ dystrophy corneas removed during corneal transplantation in the laboratory, this creating a model system to better study this condition. We have also examined the changes in cellular proteins in Fuchs’ dystrophy and this work has spawned the further research of Dr. Jurkunas.  Most recently, we are investigating what role aquaporins (“plumbing” proteins that regulate the flow of water into cells) might play in Fuchs’ dystrophy.