| H01203 | |
| H番号 | H01203 |
| 名称 | 先天性緑内障; 緑内障 3 型 |
| 概要 | Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG results from developmental abnormalities that affect the aqueous humor outflow pathway. PCG clinical features include elevated intraocular pressure (IOP), corneal edema, enlargement of the globe (buphthalmos), corneal enlargement, rupture of Descemet's membrane, and optic nerve damage. Two genes have been reported to cause PCG, CYP1B1 and LTBP2. Both genes cause a recessive form of this disease. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (GLC3A) CYP1B1 [HSA:1545] [KO:K07410] (GLC3D) LTBP2 [HSA:4053] [KO:K08023] (GLC3E) TEK [HSA:7010] [KO:K05121] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9C61.40 ICD-10: Q15.0 MeSH: C565547 C536824 C567765 OMIM: 231300 613086 617272 |
| 文献 | PMID:21150024 著者 Sharaawy T, Bhartiya S タイトル Surgical management of glaucoma: evolving paradigms. 雑誌 Indian J Ophthalmol 59 Suppl:S123-30 (2011) DOI:10.4103/0301-4738.73692 PMID:22128238 (CYP1B1 LTBP2) 著者 Abu-Amero KK, Osman EA, Mousa A, Wheeler J, Whigham B, Allingham RR, Hauser MA, Al-Obeidan SA タイトル Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. 雑誌 Mol Vis 17:2911-9 (2011) PMID:27270174 (TEK) 著者 Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL タイトル Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. 雑誌 J Clin Invest 126:2575-87 (2016) DOI:10.1172/JCI85830 |