Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

Kamron Khan, Adam Rudkin, David Parry, Kathryn Burdon, Martin McKibbin, Clare Logan, Zakia Abdelhamed, James Muecke, Narcis Fernandez-Fuentes, Kate Laurie, Mike Shires, Rhys Fogarty, Ian Carr, James Poulter, Joanne Morgan, Moin Mohamed, Hussain Jafri, Yasmin Raashid, Ngy Meng, Horm PisethC Toomes, R Casson, Graham Taylor, Michael Hammerton, Eamonn Sheridan, Colin Johnson, Chris Inglehearn, Jamie Craig, Manir Ali

    Research output: Contribution to journalArticlepeer-review

    49 Citations (Scopus)


    Anterior segment dysgenesis describes a group of heterogeneous developmental disorders that affect the anterior chamber of the eye and are associated with an increased risk of glaucoma. Here, we report homozygous mutations in peroxidasin (PXDN) in two consanguineous Pakistani families with congenital cataract-microcornea with mild to moderate corneal opacity and in a consanguineous Cambodian family with developmental glaucoma and severe corneal opacification. These results highlight the diverse ocular phenotypes caused by PXDN mutations, which are likely due to differences in genetic background and environmental factors. Peroxidasin is an extracellular matrix-associated protein with peroxidase catalytic activity, and we confirmed localization of the protein to the cornea and lens epithelial layers. Our findings imply that peroxidasin is essential for normal development of the anterior chamber of the eye, where it may have a structural role in supporting cornea and lens architecture as well as an enzymatic role as an antioxidant enzyme in protecting the lens, trabecular meshwork, and cornea against oxidative damage.

    Original languageEnglish
    Pages (from-to)464-473
    Number of pages10
    JournalAmerican Journal of Human Genetics
    Issue number3
    Publication statusPublished - 9 Sep 2011


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