KEGG   DISEASE: Primary congenital glaucomaHelp
Entry
H01203                      Disease                                

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 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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of eye
   H01203  Primary congenital glaucoma
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Glaucoma or glaucoma suspect
   9C61  Glaucoma
    H01203  Primary congenital glaucoma
BRITE hierarchy
Pathway
hsa00140  Steroid hormone biosynthesis
hsa00380  Tryptophan metabolism
hsa00980  Metabolism of xenobiotics by cytochrome P450
Gene
(GLC3A) CYP1B1 [HSA:1545] [KO:K07410]
(GLC3D) LTBP2 [HSA:4053] [KO:K08023]
Other DBs
ICD-11: 9C61.40
ICD-10: Q15.0
MeSH: C565547 C536824 C567765
OMIM: 231300 613086
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)
DOI:10.1038/ejhg.2010.181
Reference
  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
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