Retinitis pigmentosa and allied conditions today a paradigm of translational research 英文参考文献.docVIP

Ayuso and Millan Genome Medicine 2010, 2:34 /content/2/5/34 REVIEW Retinitis pigmentosa and allied conditions today: a paradigm of translational research Carmen Ayuso* and Jose M Millan 1 2 aspects of RP are shown in Table 1. e clinical presentation can be macular, cone or cone-rod dystrophy (CORD), in which the decrease in visual acuity pre- dominates over the visual ?eld loss, or it can be the only symptom. Cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, which are the photoreceptors responsible for central and color vision. Typically, age of onset is early teens, but it can be very variable, ranging from congenital forms of the disease (Leber’s congenital amaurosis (LCA)) to late-onset RD. RP is usually non-syndromic (70 to 80%), but there are also more than 30 syndromic forms, involving multiple organs and pleiotropic e?ects, the most frequent being Usher syndrome (USH; approximately 15 to 20% of all RP cases). USH associates RP with sensorineural deafness and sometimes vestibular dysfunction. e second most common syndromic form is Bardet-Biedl syndrome (BBS), which accounts for 20 to 25% of syndromic forms of RP or approximately 5% of cases of RP. Patients with BBS typically present with RP, obesity, polydactyly, renal abnormalities and mild mental retardation. Abstract Monogenic human retinal dystrophies are a group of disorders characterized by progressive loss of photoreceptor cells leading to visual handicap. Retinitis pigmentosa is a type of retinal dystrophy where degeneration of rod photoreceptors occurs at the early stages. At present, there are no available eective therapies to maintain or improve vision in patients aected with retinitis pigmentosa, but post-genomic studies are allowing the development of potential therapeutic approaches. This review summarizes current