METHODS FOR THE DIAGNOSIS AND THERAPY OF RETINITIS PIGMENTOSA

摘要

The present invention relates to a method of identifying a subject having or at risk of having or developing a retinitis pigmentosa, comprising detecting in a sample obtained from said subject, the presence of at least one mutation in the rhodopsin (RHO) gene selected from the group consisting of c.263T>C, c.620T>A and c.1031A>C wherein the presence of said mutation indicates an increased risk of having or being at risk of having or developing the retinitis pigmentosa.