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Indian J Ophthalmol ; 2011 Jan; 59 (Suppl1): 31-42
Artículo en Inglés | IMSEAR | ID: sea-136250

RESUMEN

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.


Asunto(s)
Hidrocarburo de Aril Hidroxilasas/genética , Autoanticuerpos/inmunología , Muerte Celular , Mapeo Cromosómico , Proteínas del Sistema Complemento/inmunología , Sistema Enzimático del Citocromo P-450/genética , Proteínas del Citoesqueleto/genética , Epistasis Genética , Proteínas del Ojo/genética , Expresión Génica , Heterogeneidad Genética , Genoma Humano , Glaucoma/genética , Glaucoma/inmunología , Glaucoma/fisiopatología , Glaucoma de Ángulo Abierto/genética , Glicoproteínas/genética , Humanos , Factores de Crecimiento Nervioso/genética , Hipertensión Ocular/etiología , Células Ganglionares de la Retina , Factores de Riesgo , Factor de Transcripción TFIIIA/genética
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