Assuntos
Distrofias de Cones e Bastonetes/diagnóstico , Síndrome de Ellis-Van Creveld/diagnóstico , Papiledema/diagnóstico , Adolescente , Distrofias de Cones e Bastonetes/etiologia , Síndrome de Ellis-Van Creveld/complicações , Feminino , Angiofluoresceinografia , Humanos , Papiledema/etiologia , Radiografia Torácica , Hemorragia Retiniana/diagnóstico , Hemorragia Retiniana/etiologia , Tomografia de Coerência Óptica , Acuidade VisualRESUMO
Retinitis pigmentosa (RP) is a genetically heterogeneous group of hereditary retinal disorders characterized by photoreceptor cell death, associated with night blindness, vision loss, progressive peripheral visual field loss and abnormalities in the electroretinogram. A number of gene defects have so far been associated with RP, which cause a progressive loss of rod photoreceptor function, followed by cone photoreceptor dysfunction and eventually complete blindness. The rate of blindness related to RP is high. At present there is no effective therapeutic strategy for RP. In recent years, with the progress of molecular biology technique, many new therapeutic approaches have become promising. This article summarizes the pathogenesis of RP and gives a brief overview of related research progress of RP therapeutic strategies. (Chin J Ophthalmol, 2017, 53: 148-153).