KEGG   DISEASE: H01203Help
Entry
H01203                      Disease                                

Name
Primary congenital glaucoma (PCG)
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 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
Developmental disorder; Eye disease
BRITE hierarchy
Pathway
Steroid hormone biosynthesis
Tryptophan metabolism
Metabolism of xenobiotics by cytochrome P450
Gene
(GLC3A) CYP1B1 [HSA:1545] [KO:K07410]
(GLC3D) LTBP2 [HSA:4053] [KO:K08023]
Drug
Surgery for glaucoma: goniotomy, goniopuncture, trabeculotomy, and trabeculectomy.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  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)
Reference
  Authors
Azmanov DN, Dimitrova S, Florez L, Cherninkova S, Draganov D, Morar B, Saat R, Juan M, Arostegui JI, Ganguly S, Soodyall H, Chakrabarti S, Padh H, Lopez-Nevot MA, Chernodrinska V, Anguelov B, Majumder P, Angelova L, Kaneva R, Mackey DA, Tournev I, Kalaydjieva L
  Title
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
  Journal
Eur J Hum Genet 19:326-33 (2011)
Reference
  Authors
Sharaawy T, Bhartiya S
  Title
Surgical management of glaucoma: evolving paradigms.
  Journal
Indian J Ophthalmol 59 Suppl:S123-30 (2011)

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