| H01798 | |
| H number | H01798 |
| Name | Autosomal dominant neovascular inflammatory vitreoretinopathy |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | CAPN5 [HSA:726] [KO:K08574] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9B78.2 ICD-10: H35.2 MeSH: D018630 OMIM: 193235 |
| Reference | PMID:27390515 AUTHORS Cham A, Bansal M, Banda HK, Kwon Y, Tlucek PS, Bassuk AG, Tsang SH, Sobol WM, Folk JC, Yeh S, Mahajan VB TITLE Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy. JOURNAL Clin Ophthalmol 10:1187-97 (2016) DOI:10.2147/OPTH.S103324 PMID:1284594 AUTHORS Stone EM, Kimura AE, Folk JC, Bennett SR, Nichols BE, Streb LM, Sheffield VC TITLE Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. JOURNAL Hum Mol Genet 1:685-9 (1992) DOI:10.1093/hmg/1.9.685 PMID:23055945 AUTHORS Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, Folk JC, Sheffield VC, Stone EM TITLE Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. JOURNAL PLoS Genet 8:e1003001 (2012) DOI:10.1371/journal.pgen.1003001 |