| H01798 | |
| H番号 | H01798 |
| 名称 | 常染色体優性新生血管炎症性硝子体網膜症 |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | CAPN5 [HSA:726] [KO:K08574] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9B78.2 ICD-10: H35.2 MeSH: D018630 OMIM: 193235 |
| 文献 | PMID:27390515 著者 Cham A, Bansal M, Banda HK, Kwon Y, Tlucek PS, Bassuk AG, Tsang SH, Sobol WM, Folk JC, Yeh S, Mahajan VB タイトル Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy. 雑誌 Clin Ophthalmol 10:1187-97 (2016) DOI:10.2147/OPTH.S103324 PMID:1284594 著者 Stone EM, Kimura AE, Folk JC, Bennett SR, Nichols BE, Streb LM, Sheffield VC タイトル Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. 雑誌 Hum Mol Genet 1:685-9 (1992) DOI:10.1093/hmg/1.9.685 PMID:23055945 著者 Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, Folk JC, Sheffield VC, Stone EM タイトル Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. 雑誌 PLoS Genet 8:e1003001 (2012) DOI:10.1371/journal.pgen.1003001 |