P728: Identification of rare genetic variants in keratoconus families via exome sequencing

Keratoconus (KC) (MONDO:0015486) is the most common corneal ectasia disorder, affecting ∼1 in 2,000 people. Characterized by centralized thinning and bulging of the cornea, KC manifests as a cone-like morphology. KC impairs visual acuity in patients, inducing myopia (nearsightedness) and astigmatism. Symptoms arise during adolescence and progress into adulthood. Between 5-23% of patients have a family history of KC, though most cases are sporadic. The precise etiology of KC remains unclear, though evidence points to a non-Mendelian, multigenic model with incomplete penetrance.