用科学的态度正确认识视网膜色素变性

视网膜色素变性(RP)是最常见的遗传性致盲眼底病,具有高散发性和高临床异质性.除了常见的遗传类型外,还具有双基因遗传,线粒体遗传,不完全显性遗传等新遗传方式.RP的表型复杂,Peripherin/RDS、RHO、RP2和RP3等RP基因出现了基因型和表型不一致现象,中心性、单发性、无色素性和缓慢型视网膜变性等少见RP具有复杂的临床表型.视网膜移植术、视网膜植入术、药物及神经营养因子治疗和基因治疗等治疗体系已经建立.但是,一些眼科医师对于RP治疗的新进展和新知识了解不多,因此积极地更新知识,以科学的态度正确地认识RP非常必要.(中华眼科杂志,2009,45:193-195)

To cognize retinitis pigmentosa with scientific view

Objective Retinitis pigmentosa(RP)is the most common inherited eye disease that usually leads into blind,and is high simplex and clinical heterogeneity.Recent years,some new hereditary forms have been found,such as digenic RP,mltochondrial RP,incomplete dominant inheritance RP.The phenotype of RP is multiplicity.Incompatible phenomenon between genotype and phenotypes was shown in some genes such as peripherin/RDS,RHO,RP2 and RP3.The complicated phenotype was shown in the rare RP forms,such as centricity RP,stemma RP,retinitis pigmentosa sine pigmento,and retinal degeneration slow.Retinal transplantation,retinal implantation,drug and neurotrophic factor therapy,and gene therapy have been well studied worldwide and presented some hopeful efficacy.Ophthalmologists and practitioners should cognize the new advance and new knowledge on RP therapy with a scientific view for better serving the RP patients.(Chin J Opbtbalmol,2009,45:193-195)