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ADNIV

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an autoimmune disease of the eye without systemic features.

This eye-specific, inflammatory condition is characterized by the early presence of vitreous inflammation and loss of the ERG b-wave. The disease is progressive and complicated by pigmentary retinal degeneration, panuveitis, cystoid macular edema, retinal and iris neovascularization, epiretinal membrane formation, vitreous traction on the retina, vitreous hemorrhage, retinal detachment, and blindness.

The eye is an immune privileged site where the local immunological mechanisms are poorly understood. We believe understanding the cause of ADNIV will provide tremendous insight into more common eye diseases including uveitis, diabetic retinopathy, and proliferative vitreoretinopathy.

We are conducting studies into the genetics, proteomics and surgical therapy of this complex disease.

 

Please contact us for a consultation or to learn how you can support our research program.

Projects

We are using proteomics to study the vitreous fluid from eyes with ADNIV.

News

Mar 16 2018 | Posted In: 20/20 Blog
Novel CAPN5 mutation associated with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Dec 21 2017 | Stanford Report | Posted In: 20/20 Blog, Press
Researchers are studying proteins in the eye to find existing drugs that can treat a rare eye disease known as neovascular inflammatory vitreoretinopathy that causes blindness.
Jul 26 2016 | Posted In: 20/20 Blog
Using SAXS to probe the solution structure and conformation of CAPN5
May 18 2015 | Posted In: 20/20 Blog
CAPN5 is a gene that encodes for a calcium-activated protease. This protease plays an important role in the human body by cleaving different proteins and acting in different cell signaling cascades.

Publications

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay, Velez, Gabriel, Bassuk Alexander G., Schaefer Kellie A., Brooks Brian, Gakhar Lokesh, Mahajan Maryann, Kahn Philip, Tsang Stephen H., Ferguson Polly J., and Mahajan Vinit B. , Molecular Case Studies, p.mcs–a002519, (2018)
Calpain-5 gene expression in the mouse eye and brain, Schaefer, Kellie, Mahajan Maryann, Gore Anuradha, Tsang Stephen H., Bassuk Alexander G., and Mahajan Vinit B. , BMC research notes, Volume 10, Number 1, p.602, (2017)
Therapeutic drug repositioning using personalized proteomics of liquid biopsies, Velez, Gabriel, Bassuk Alexander G., Colgan Diana, Tsang Stephen H., and Mahajan Vinit B. , JCI insight, Volume 2, (2017)
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina., Wert, Katherine J., Skeie Jessica M., Bassuk Alexander G., Olivier Alicia K., Tsang Stephen H., and Mahajan Vinit B. , Hum Mol Genet, 2014 Jan 12, (2014)
Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy., Mahajan, Vinit B., and Lin Jonathan H. , Clin Ophthalmol, 2013, Volume 7, p.1339-45, (2013)
Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy., Rowell, Hannah A., Bassuk Alexander G., and Mahajan Vinit B. , Clin Ophthalmol, 2012, Volume 6, p.2037-44, (2012)