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Non-Synonymous Variants in the Premelanosome Protein (PMEL) Gene are Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Cause Biochemical Defects
DownloadFall 2018
Pigmentary Glaucoma (PG) is a common glaucoma subtype that results from release of pigment from the iris (Pigment Dispersion Syndrome) and its deposition throughout the anterior chamber of the eye. Although PG has a substantial heritable component, no causative gene variants have yet been...
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Using a Zebrafish Animal Model to Identify the First Candidate Gene for Pigmentary Glaucoma
DownloadSpring 2019
Premelanosome protein (PMEL) was identified as a candidate gene for the development of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG) in humans. Mutations in PMEL were shown to cause pigment and ocular defects in several animals but there is currently no known PMEL associated...