Autosomal dominant neovascular inflammatory vitreoretinopathy

Definition:

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an inherited autoimmune uveitis and vitreoretinal degeneration characterized by inflammatory cells in the vitreous and anterior chamber, photoreceptor degeneration, vitreous hemorrhages, epiretinal membranes (ERMs), and proliferative iris and retinal neovascularization. It is caused by mutations in CAPN5 gene, encoding an intracellular protease expressed in the retina. In most patients the diagnosis is difficult to make before age 40. Electroretinography can help make the diagnosis in younger individuals in whom the only other sign is the presence of vitreous cells.

References:

[1]. Abdourahman Cham, et al. Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy. Clin Ophthalmol. 2016 Jun 27;10:1187-97. [Content Brief]

[2]. E M Stone, et al. Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. Hum Mol Genet. 1992 Dec;1(9):685-9. [Content Brief]

[3]. Vinit B Mahajan, et al. Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. PLoS Genet. 2012;8(10):e1003001. [Content Brief]

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