RESUMO
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.
Assuntos
Hidrocarboneto de Aril Hidroxilases/genética , Autoanticorpos/imunologia , Morte Celular , Mapeamento Cromossômico , Proteínas do Sistema Complemento/imunologia , Sistema Enzimático do Citocromo P-450/genética , Proteínas do Citoesqueleto/genética , Epistasia Genética , Proteínas do Olho/genética , Expressão Gênica , Heterogeneidade Genética , Genoma Humano , Glaucoma/genética , Glaucoma/imunologia , Glaucoma/fisiopatologia , Glaucoma de Ângulo Aberto/genética , Glicoproteínas/genética , Humanos , Fatores de Crescimento Neural/genética , Hipertensão Ocular/etiologia , Células Ganglionares da Retina , Fatores de Risco , Fator de Transcrição TFIIIA/genéticaRESUMO
Glaucoma is the second largest blinding disorder, after cataract, affecting about 67 million people worldwide. In India about 1.5 million people are blind due to glaucoma. Primary open angle glaucoma is the major sub-type of glaucoma affecting all ages and is genetically complex. Myocilin and optineurin are two different genes that have been implicated for primary open angle glaucoma. This review is focused on the studies being conducted in India on primary open angle glaucoma to identify the molecular defects and new directions undertaken using bioinformatic approaches towards a better understanding of the disease.