Ben Brett and Dina Ahram will present on Sept 15th in 2-501BSB at noon
Background on Ben Brett’s talk
Background on Dina Ahram’s talk
Clinical and Genetic Investigation of Familial Angle-Closure Glaucoma in the Basset Hound
Primary angle closure glaucoma (PACG) is an optic neuropathy marked by progressive retinal ganglion cell degeneration, cupping of the optic nerve head and subsequent loss of vision in association with a gradual increase in intraocular pressure (IOP). The condition is most commonly caused as a result of the collapse of the irido-corneal angle due to the movement of the root of the iris anteriorly towards the cornea. We have identified a number of Basset Hound pedigrees with characteristic PACG that in many aspects recapitulates the clinical PACG phenotype observed in human patients. The condition in Basset Hounds appears at variable ages of onset, segregates in an autosomal recessive manner and displays complete penetrance. Our goal is to utilize the Basset Hound PACG model in order to characterize and better understand the pathophysiology of PACG and its predisposing risk factors. We are uniquely positioned to achieve our goal through a combination of high density mapping of genetic markers, as well as analysis of multiple quantitative traits, copy number variations and gene expression changes in PACG Basset Hound pedigrees, which may enable us to identify the gene or gene network implicated in PACG. Once identified, we aim to characterize the role of this gene in PACG through molecular and protein functional studies. Ultimately, we anticipate for these studies to provide valuable insight into the pathophysiology and genetics of human PACG.