原发性视网膜色素变性伴发症状的研究进展

Research advances in concomitant symptoms of retinitis pigmentosa

原发性视网膜色素变性(retinitis pigmentosa,RP)是眼科常见的遗传性致盲性疾病,其显著的遗传异质性和表型异质性对其相关致病机制和治疗方法的研究带来巨大挑战。RP除了经典的视网膜病变以外,在眼部其他组织或眼外器官均可伴发多种病理性改变,但国内外却少见对此的报道。本文对国内外相关文献进行综述,总结RP伴发症状的研究进展,为其诊断和个体化治疗提供一定的参考。

Retinitis pigmentosa(RP) is a common hereditary blinding disease in ophthalmology with significant genetic and phenotypic heterogeneity, which brings huge challenge in researches about its pathogenic mechanism and treatment. In addition to the classic characteristics of retinopathy, RP may be associated with a variety of pathological changes in extraocular organs or other tissues of the eye, but few reports have been made at home and abroad. This article reviews the related literatures, aiming to elucidate the research progress in concomitant symptoms of RP and provide evidence for its diagnosis and individualized treatment.