This study proposes to investigate genes and biological processes that lead to keratoconus. We will enroll individuals with keratoconus. Those with positive family history will be requested to inform their relatives so that we may recruit unaffected first-degree relatives as well. This is a disease in which the cornea is abnormally steep and thin. It affects approximately 1 in 2000 individuals and usually begins in the second decade of life. Keratoconus is a progressive disorder, which results in loss of vision. Contact lenses or glasses may be used at early stages to treat visual impairments. UV—mediated crosslinking is performed to crosslink the collagen in the cornea and slow down the weakening of the cornea. However, this treatment is not suited for all patients. Keratoconus has a strong genetic component, and while several genes are suspected clear causative genes and underlying pathogenic processes have not been identified yet. The goal of our research is to identify genes that harbor mutations that contribute to keratoconus and underlying biochemical processes that are altered as a result and contribute to keratoconus pathogenesis. We will perform genomic studies from whole blood DNA samples, in subsets of patients analyze inflammatory markers in tear fluid, and for those undergoing a cornea transplant we will request the discarded corneal tissue for additional studies. Individuals interested in joining the study should email Dr. Chakravarti.
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