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

Cassandre Labelle-Dumais
Goutham Pyatla
Seyyedhassan Paylakhi
Nicholas G Tolman
Syed Hameed
Yusef Seymens
Eric Dang
Anil K Mandal
Sirisha Senthil
Rohit C Khanna
Meha Kabra
Inderjeet Kaur
Simon W M John
Subhabrata Chakrabarti
K Saidas Nair


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. Inefficient aqueous humor (AqH) outflow resulting from structural or functional alterations in ocular drainage tissues are well established to cause 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