Title

Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure.

Document Type

Article

Publication Date

5-29-2020

Keywords

JMG

JAX Source

Dis Model Mech 2020 May 29; 13(5):dmm042853

PMID

32152063

DOI

https://doi.org/10.1242/dmm.042853

Abstract

Glaucoma is a leading cause of blindness, affecting up to 70 million people worldwide. High intraocular pressure (IOP) is a major risk factor for glaucoma. It is well established that inefficient aqueous humor (AqH) outflow resulting from structural or functional alterations in ocular drainage tissues causes high IOP, but the genes and pathways involved are poorly understood. We previously demonstrated that mutations in the gene encoding the serine protease PRSS56 induces ocular angle closure and high IOP in mice and identified reduced ocular axial length as a potential contributing factor. Here, we show that

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