ISOLATED POLYPEPTIDE AND PHARMACEUTICAL COMPOSITION COMPRISING IT FOR THE DIAGNOSIS OF RETINAL DYSTROPHY AND USE THEREOF IN THE PREPARATION OF A MEDICAMENT FOR THE 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.