GLAUCOMA, PRIMARY OPEN ANGLE

General Information (adopted from Orphanet):

Synonyms, Signs: GLC1E, INCLUDED
GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED
POAG GLAUCOMA 1, OPEN ANGLE, E, INCLUDED
Number of Symptoms 4
OrphanetNr:
OMIM Id: 137760
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000545) Myopia 286 / 7739
2
(HPO:0012108) Primary open angle glaucoma 6 / 7739
3
(MedDRA:10030348) Open angle glaucoma 3 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the optic disc (optic nerve head) with a slowly progressive loss of visual sensitivity. Many patients with glaucoma have intraocular pressures above the ...
Clinical Description OMIM Tanito et al. (2004) described the use of a digitized laser slit lamp that uses a helium-neon laser as a light source in detecting reduction of posterior pole retinal thickness in glaucoma. Posterior pole retinal thickness was found ...
Molecular genetics OMIM Rezaie et al. (2002) identified mutations in the OPTN gene (602432) in patients with adult-onset POAG. They found that mutations in OPTN account for 17% of patients with hereditary POAG, including individuals with normal intraocular pressure.

...

Population genetics OMIM Coulehan et al. (1980) found that black participants in a glaucoma screening program had higher mean intraocular pressures, more frequent pathologic disc changes, and more new cases of glaucoma discovered than did whites matched for sex and age. ...