| H01203 | |
| H number | H01203 |
| Name | Primary congenital glaucoma; Glaucoma 3 |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (GLC3A) CYP1B1 [HSA:1545] [KO:K07410] (GLC3D) LTBP2 [HSA:4053] [KO:K08023] (GLC3E) TEK [HSA:7010] [KO:K05121] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9C61.40 ICD-10: Q15.0 MeSH: C565547 C536824 C567765 OMIM: 231300 613086 617272 |
| Reference | PMID:21150024 AUTHORS Sharaawy T, Bhartiya S TITLE Surgical management of glaucoma: evolving paradigms. JOURNAL Indian J Ophthalmol 59 Suppl:S123-30 (2011) DOI:10.4103/0301-4738.73692 PMID:22128238 (CYP1B1 LTBP2) AUTHORS Abu-Amero KK, Osman EA, Mousa A, Wheeler J, Whigham B, Allingham RR, Hauser MA, Al-Obeidan SA TITLE Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. JOURNAL Mol Vis 17:2911-9 (2011) PMID:27270174 (TEK) AUTHORS 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 TITLE Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. JOURNAL J Clin Invest 126:2575-87 (2016) DOI:10.1172/JCI85830 |