Purchase this article with an account.
Adrian Alexander Lahola-Chomiak, Tim Footz, Thien-Kim Nguyen-Phuoc, Ordan J Lehmann, Michael A Walter; Genetic Etiology of Pigmentary Dispersion Syndrome/Pigmentary Glaucoma. Invest. Ophthalmol. Vis. Sci. 2017;58(8):2131.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
The genetic etiology of Pigmentary Dispersion Syndrome (PDS) and Pigmentary Glaucoma (PG) has remained elusive despite years of study suggesting a strong heritable component. We investigated the genetic basis of PDS/PG in two Mennonite kindred’s and a sporadic PDS/PG panel to elucidate the basis of these disorders.
We used whole exome sequencing (WES) analysis of two Mennonite kindred’s to determine strong candidate genes for PDS/PG. Putative candidate genes were screened in a panel of sporadic PDS/PG cases to discover additional variants of interest. Currently, we are using molecular and cell biology techniques to investigate how variants in the most promising of these candidates, Pigmentary Glaucoma 1 (PG1), contributes to the pathology of PDS/PG using a human cell culture model.
Four total variants of interest in PG1 were discovered in 1 Mennonite kindred and our panel of sporadic PDS/PG cases. Functional analyses of these variants have revealed potentially damaging defects which may contribute to the etiology of PDS/PG. Western analysis and microscopy indicates the importance of proper processing and localization of PG1 within a human cell model.
We report the first discovery of a strong candidate gene for PDS/PG in humans. Elucidating the etiology of these disorders opens the door for the first rationally designed therapeutics.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
This PDF is available to Subscribers Only