Genetics Of Corneal Disorders

 

The broad ambition of our research program is to define the mutational spectrum of anterior segment ophthalmic disorders using the modern tools of human genetics and genomics.  The primary resource of our studies is a growing repository of genomic DNA from meticulously phenotyped individuals with inherited eye disease. 

Fuchs’ endothelial corneal dystrophy affects nearly 4% of the U.S. population over 40 years of age, and may cause corneal edema with decreased vision and pain. Fuchs’ dystrophy is the leading indication for corneal transplantation in the country.  Using genome-wide linkage analysis, we have discovered two genomic intervals that are linked to Fuchs’ dystrophy and we are using next generation DNA sequencing technologies to search for novel genes responsible for the disorder.


Our lab has combined evidence from genome-wide expression profiling of keratoconus corneal fibroblasts, western blot analysis of corneal fibroblast cell lysates, and immunohistochemistry of archived keratoplasty specimens to identify genes that play a role in the pathogenesis of keratoconus.


The Mootha Lab is part of the Department of Ophthalmology and is also affiliated with the McDermott Center for Human Growth and Development / Center for Human Genetics at UT Southwestern Medical Center.


Funding includes support from the National Institutes of Health and Research to Prevent Blindness.