KEGG   DISEASE: Glaucoma
Entry
H02877                      Disease                                
Name
Glaucoma
  Subgroup
Primary open angle glaucoma [DS:H00612]
Primary congenital glaucoma [DS:H01203]
Primary closed-angle glaucoma (GLCC/PACG)
Normal tension glaucoma (NTG)
Exfoliation syndrome (XFS)
Description
Glaucoma is a heterogeneous group of optic neuropathies characterized by a specific pattern of optic nerve degeneration and visual field loss that is usually accompanied by increased intraocular pressure (IOP). It is the major cause of irreversible blindness worldwide. Primary glaucoma is classified into three major forms, primary congenital glaucoma [DS:H01203], primary open-angle glaucoma [DS:H00612], and primary angle-closure glaucoma (PACG). PACG, also known as primary closed-angle glaucoma (GLCC), is characterized by iridocorneal angle closure. It has been reported that mutations in COL18A1 that encodes collagen type XVIII cause this disease. Normal tension glaucoma (NTG) is an important subtype of glaucoma in which IOP is within the statistically normal population range, and accounts for approximately a third of all primary open angle glaucoma cases. Although the molecular mechanisms underlying NTG are unknown, there is evidence for the role of genetic factors in NTG. Exfoliation syndrome (XFS) is an age-related systemic disease that affects the extracellular matrix. It increases the risk of glaucoma.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Glaucoma or glaucoma suspect
   9C61  Glaucoma
    H02877  Glaucoma
Gene
(GLCC/PACG) COL18A1 [HSA:80781] [KO:K06823]
(NTG) OPA1 [HSA:4976] [KO:K17079]
(NTG) OPTN [HSA:10133] [KO:K19946]
(XFS) LOXL1 [HSA:4016] [KO:K14678]
Other DBs
ICD-11: 9C61
MeSH: D005901 D017889
OMIM: 618880 606657 177650
Reference
PMID:30007336 (GLCC/PACG)
  Authors
Suri F, Yazdani S, Chapi M, Safari I, Rasooli P, Daftarian N, Jafarinasab MR, Ghasemi Firouzabadi S, Alehabib E, Darvish H, Klotzle B, Fan JB, Turk C, Elahi E
  Title
COL18A1 is a candidate eye iridocorneal angle-closure gene in humans.
  Journal
Hum Mol Genet 27:3772-3786 (2018)
DOI:10.1093/hmg/ddy256
Reference
PMID:12543739 (NTG)
  Authors
Aung T, Okada K, Poinoosawmy D, Membrey L, Brice G, Child AH, Bhattacharya SS, Lehmann OJ, Garway-Heath DF, Hitchings RA
  Title
The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms.
  Journal
Br J Ophthalmol 87:149-52 (2003)
DOI:10.1136/bjo.87.2.149
Reference
PMID:12073024 (NTG)
  Authors
Aung T, Ocaka L, Ebenezer ND, Morris AG, Brice G, Child AH, Hitchings RA, Lehmann OJ, Bhattacharya SS
  Title
Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.
  Journal
Hum Genet 110:513-4 (2002)
DOI:10.1007/s00439-002-0711-9
Reference
PMID:11834836 (NTG)
  Authors
Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Heon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M
  Title
Adult-onset primary open-angle glaucoma caused by mutations in optineurin.
  Journal
Science 295:1077-9 (2002)
DOI:10.1126/science.1066901
Reference
PMID:31563608 (XFS)
  Authors
Schlotzer-Schrehardt U, Zenkel M
  Title
The role of lysyl oxidase-like 1 (LOXL1) in exfoliation syndrome and glaucoma.
  Journal
Exp Eye Res 189:107818 (2019)
DOI:10.1016/j.exer.2019.107818
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