Isolated polypeptide and nucleic acid, and a pharmaceutical composition them containing, for diagnosis, monitoring and treatment of retinal dystrophy

摘要

Disclosed are methods and compositions for early diagnosis, monitoring and treatment of retinal dystrophy, age-related macular degeneration, Bardet-Biedel syndrome, Bassen-kornzweig syndrome, best disease, chroidema, gyrate atrophy, congenital amourosis, refsun syndrome, stargardt disease and Usher syndrome. In particular, the invention relates to a protein, termed 2Rdcvf1, that is differentially transcribed and expressed in subjects suffering from retinal dystrophies and the like, such as retinal dystrophy and age-related macular degeneration compared with non-sufferers, antibodies which recongnize this protein, and methods for diagnosing such conditions.