Rhodopsin Gene Mutations Causing Retinitis Pigmentosa

摘要: Major progress in understanding retinitis pigmentosa (RP), a group of hereditary retinal degenerations, occurred with the discovery that some forms autosomal dominant (ad) RP are caused by mutations gene encoding rod visual pigment, rhodopsin (reviewed Humphries, et al, 1993). An important question arising from these molecular genetic discoveries is: How does pathology lead to photoreceptor dysfunction and progressive degeneration? A number different scientific approaches, clinical, being used try answer this question. We studying patients using non-invasive tests function understand relationship between lesions clinical phenotype (Jacobson 1991; Kemp 1992a; Jacobson 1994).