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Complex genetic mechanisms in glaucoma: An overview.
Indian J Ophthalmol ; 2011 Jan; 59 (Suppl1): 31-42
Article Dans Anglais | 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.
Sujets)

Texte intégral: Disponible Indice: IMSEAR (Asie du Sud-Est) Sujet Principal: Cellules ganglionnaires rétiniennes / Autoanticorps / Humains / Protéines du système du complément / Aryl hydrocarbon hydroxylases / Glycoprotéines / Expression des gènes / Génome humain / Glaucome / Glaucome à angle ouvert Type d'étude: Etude d'étiologie / Facteurs de risque langue: Anglais Texte intégral: Indian J Ophthalmol Année: 2011 Type: Article

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Texte intégral: Disponible Indice: IMSEAR (Asie du Sud-Est) Sujet Principal: Cellules ganglionnaires rétiniennes / Autoanticorps / Humains / Protéines du système du complément / Aryl hydrocarbon hydroxylases / Glycoprotéines / Expression des gènes / Génome humain / Glaucome / Glaucome à angle ouvert Type d'étude: Etude d'étiologie / Facteurs de risque langue: Anglais Texte intégral: Indian J Ophthalmol Année: 2011 Type: Article