Dr. Mootha’s goals as a clinician-scientist are to investigate the molecular basis and treatment modalities of corneal disorders in a collaborative, interdisciplinary research environment. His research efforts fall into two basic areas:
The Mootha lab is focused on the genetics of Fuchs’ endothelial corneal dystrophy. Using familial and association studies in different population cohorts, Dr. Mootha has examined the role of triplet repeat expansions in the TCF4 gene in the pathogenesis of Fuchs’ endothelial corneal dystrophy. His lab co-discovered that expanded CUG RNA transcripts accumulate to form discrete, ribonuclear foci in the endothelium of keratoplasty samples of subjects with the triplet repeat expansions. These findings implicate gain of function RNA for the first time in a common disease.
The new millennium marked a paradigm shift in the field of corneal transplantation. There has been a trend away from full-thickness penetrating keratoplasty to lamellar keratoplasty procedures that allow for selective removal and replacement of the diseased corneal sub-layer. Lamellar keratoplasty procedures are less invasive, better preserve the structural integrity of the globe, and offer more rapid visual recovery for patients than traditional penetrating keratoplasty. Dr. Mootha’s research has focused on the outcomes of lamellar keratoplasty using the Department of Ophthalmology’s advanced anterior segment imaging capabilities, including confocal microscopy, anterior segment optical coherence tomography, and Scheimpflug photography.