RESUMO
Primary open-angle glaucoma (POAG) is a group of multifactorial diseases that affects 1.5% of the population. If untreated, the disease leads to irreversible damage to the visual system. The clinical features of POAG are excavation of the optic disc and visual field defects, probably due to degeneration of retinal ganglion cells. Important risk factors for POAG are older age, elevated intraocular pressure, the presence of POAG in relatives, and still largely unknown molecular genetic factors. The clinical, genetic and pathological heterogeneity most likely reflects the complex heterogeneous situation at the molecular level. The three genes known to be involved in POAG (MYOC, CYP1B1 and OPTN) account for up to 18% of the POAG cases. These findings result in new possibilities for the presymptomatic molecular diagnosis of POAG.
Assuntos
Hidrocarboneto de Aril Hidroxilases/genética , Proteínas do Olho/genética , Glaucoma de Ângulo Aberto/genética , Glicoproteínas/genética , Fator de Transcrição TFIIIA/genética , Fatores Etários , Proteínas de Ciclo Celular , Citocromo P-450 CYP1B1 , Proteínas do Citoesqueleto , Glaucoma de Ângulo Aberto/diagnóstico , Glaucoma de Ângulo Aberto/epidemiologia , Humanos , Pressão Intraocular , Proteínas de Membrana Transportadoras , Técnicas de Diagnóstico Molecular , Mutação , Fatores de RiscoAssuntos
Glaucoma/genética , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Ligação Genética , Humanos , Escore Lod , Pessoa de Meia-Idade , Mutação , LinhagemRESUMO
The authors present the cases of two parents with Usher syndrome type I who appeared to have normal offspring, and two families, one with autosomal dominant retinoblastoma and a RB1-gene mutation and one with primary open angle glaucoma and a myocilin gene mutation, in whom DNA-analysis was used to see whether check-ups were needed. The field of ophthalmogenetics comprises many disorders, both congenital and those with a later onset. Mendelian, mitochondrial, as well as multifactorial heredity is seen. Recent progress in this field, especially in molecular genetics, has created new possibilities, but some situations appear to be more complex than previously assumed. Particularly if there is genetic heterogeneity or multifactorial inheritance, possibilities for counselling and DNA analysis remain limited.