retinitis pigmentosa and allied conditions today a paradigm of translational research今天色素性视网膜炎和盟军条件转化研究的范式.pdfVIP

Ayuso and Millan Genome Medicine 2010, 2:34 /content/2/5/34 RE VIE W Retinitis pigmentosa and allied conditions today: a paradigm of translational research 1 2 Carmen Ayuso* and Jose M Millan aspects of RP are shown in Table 1. e clinical Abstract presentation can be macular, cone or cone-rod dystrophy Monogenic human retinal dystrophies are a group (CORD), in which the decrease in visual acuity pre- of disorders characterized by progressive loss of dominates over the visual field loss, or it can be the only photoreceptor cells leading to visual handicap. Retinitis symptom. Cone dystrophy is an inherited ocular disorder pigmentosa is a type of retinal dystrophy where characterized by the loss of cone cells, which are the degeneration of rod photoreceptors occurs at the photoreceptors responsible for central and color vision. early stages. At present, there are no available eective Typically, age of onset is early teens, but it can be very therapies to maintain or improve vision in patients variable, ranging from congenital forms of the disease aected with retinitis pigmentosa, but post-genomic (Leber’s congenital amaurosis (LCA)) to late-onset RD. studies are allowing the development of potential RP is usually non-syndromic (70 to 80%), but there are therapeutic approaches. This review summarizes also more than 30 syndromic forms, involving multiple current knowledge on genes that have been identie