Complex genetic mechanisms in glaucoma: An overview.
Indian J Ophthalmol
;
2011 Jan; 59 (Suppl1): 31-42
Article
in English
| IMSEAR
| ID: sea-136250
ABSTRACT
Glaucomas comprise a group of hereditary optic neuropathies characterized by progressive and irreversible visual field loss and damage to the optic nerve head. It is a complex disease with multiple molecular mechanisms underlying its pathogenesis. Genetic heterogeneity is the hallmark of all glaucomas and multiple chromosomal loci have been linked to the disease, but only a few genes have been characterized, viz. myocilin (MYOC), optineurin (OPTN), WDR36 and neurotrophin-4 (NTF4) in primary open angle glaucoma (POAG) and CYP1B1 and LTBP2 in congenital and developmental glaucomas. Case-control-based association studies on candidate genes involved in different stages of glaucoma pathophysiology have indicated a very limited involvement. The complex mechanisms leading to glaucoma pathogenesis indicate that it could be attributed to multiple genes with varying magnitudes of effect. In this review, we provide an appraisal of the various efforts in unraveling the molecular mystery in glaucoma and also some future directions based on the available scientific knowledge and technological developments.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Retinal Ganglion Cells
/
Autoantibodies
/
Humans
/
Complement System Proteins
/
Aryl Hydrocarbon Hydroxylases
/
Glycoproteins
/
Gene Expression
/
Genome, Human
/
Glaucoma
/
Glaucoma, Open-Angle
Type of study:
Etiology study
/
Risk factors
Language:
English
Journal:
Indian J Ophthalmol
Year:
2011
Type:
Article
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