RPE65 And RHO Gene Mutations Screening In Patients With Retinitis Pigmentosa

Background: Retinitis pigmentosa(RP) is a group of inherited retinal disease in which abnormalities of the photoreceptors and the retinal pigment epithelium(RPE) of the retina lead to progressive visual loss. Recently, RP is affecting about 1 in 3500 people and there are over 1 million patients worldwide. Most forms of RP are monogenic and genetic heterogenetic. Advances in molecular genetics have provided new insights into the pathogenic mechanisms of RP. Recently,RHO is studied in domestic and overseas research institutions. To date over 100 RHO mutations have been identified. The mutations in RHO are responsible for 16%-25% of the ADRP in Europe and North America, 7% or so in China and Japan. RPE65 mutations not only cause ARRP, but rod-cone dystrophy and Leber congenital amaurosis(LCA). So far, more than 50 RPE mutations have been reported, but the research about it is seldom in domestic.Objectives: To screen RPE65 and RHO gene mutations in patients with retinitis pigmentosa(RP) from North China and to evaluate their effects in pathogenesis of RP.Methods: We recruited 31 patients with RP from clinic of our hospital, of which 22 are male and 9 are female. They are all the Han nationality and from North China. Of all the patients, 24 are sporadic and 7 come from 1 ADRP family. Forty normal individuals were acted as control group. Ophthalmic examinations included funduscopy, visual acuity, visual field and electroretinography(ERG) of all patients were performed. Genomic DNA from all patients and 40 normal persons were extracted, and subsequently 12 exons of RPE65 and RHO were screened for...