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Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.

Abstract：

:Angle-closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people. Although 4 million people are bilaterally blind from ACG, the causative molecular mechanisms of ACG remain to be defined. High intraocular pressure induces glaucoma in ACG. High intraocular pressure traditionally was suggested to result from the iris blocking or closing the angle of the eye, thereby limiting aqueous humor drainage. Eyes from individuals with ACG often have a modestly decreased axial length, shallow anterior chamber and relatively large lens, features that predispose to angle closure. Here we show that genetic alteration of a previously unidentified serine protease (PRSS56) alters axial length and causes a mouse phenotype resembling ACG. Mutations affecting this protease also cause a severe decrease of axial length in individuals with posterior microphthalmia. Together, these data suggest that alterations of this serine protease may contribute to a spectrum of human ocular conditions including reduced ocular size and ACG.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Nair KS,Hmani-Aifa M,Ali Z,Kearney AL,Ben Salem S,Macalinao DG,Cosma IM,Bouassida W,Hakim B,Benzina Z,Soto I,Söderkvist P,Howell GR,Smith RS,Ayadi H,John SW

doi

10.1038/ng.813

subject

Has Abstract

pub_date

2011-06-01 00:00:00

pages

579-84

issue

6

eissn

1061-4036

issn

1546-1718

pii

ng.813

journal_volume

43

pub_type

杂志文章

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