RESUMO
Glaucoma is a heterogeneous group of diseases which all share retinal ganglion cell loss leading to a typical optic disc cupping and characteristic visual field defects. Glaucoma is the leading cause of irreversible blindness affecting 8.4 million people. In 2013, 65 million people suffered from glaucoma worldwide and the number will increase to about 112 million in 2040. This review provides an overview about the classification and genetic basics in glaucoma.
Assuntos
Glaucoma/classificação , Glaucoma/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Estudos Transversais , Endofenótipos , Feminino , Predisposição Genética para Doença/genética , Glaucoma/epidemiologia , Glaucoma/terapia , Humanos , Lactente , Pressão Intraocular/genética , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Acuidade VisualRESUMO
Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.