Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Retinitis pigmentosa and allied conditions today: a paradigm of translational research | Ayuso and Millan Genome Medicine 2010 2 34 http content 2 5 34 w Genome Medicine REVIEW L_ Retinitis pigmentosa and allied conditions today a paradigm of translational research Carmen Ayuso 1 and Jose M Millan2 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 effective therapies to maintain or improve vision in patients affected with retinitis pigmentosa but post-genomic studies are allowing the development of potential therapeutic approaches. This review summarizes current knowledge on genes that have been identified to be responsible for retinitis pigmentosa the involvement of these genes in the different forms of the disorder the role of the proteins encoded by these genes in retinal function the utility of genotyping and current efforts to develop novel therapies. Introduction Human retinal dystrophies RD are a group of disorders characterized by a primary and progressive loss of photoreceptor cells leading to visual handicap. Monogenic RD are rare diseases. The most common form of the disease retinitis pigmentosa RP is characterized by primary degeneration of rod photoreceptors and has an estimated prevalence of around 1 in 4 000 1-4 although higher frequencies have been reported in some Asian populations 1 in 930 in South India 5 and approximately 1 in 1 000 in China 6 . RP constitutes 85 to 90 of RD cases. The first symptoms of RP are retinal pigment on fundus examination and night blindness followed by progressive loss in the peripheral visual field eventually leading to legal blindness after several decades. The clinical Correspondence cayuso@ Department of Medical Genetics IIS-Fundación Jimenez Diaz CIBERER Av Reyes Católicos no. 2 28040 Madrid Spain Full list of .
