Retinitis pigmentosa (RP) is the most common form of retinal dystrophies. It is characterized by an initial involvement of the rods and subsequent degeneration of the cones and cells of the retinal pigment epithelium. The first clinical symptoms are loss of night vision and a progressive decrease in visual field (tunnel vision) leading to total vision loss. It is inherited following an autosomal dominant, autosomal recessive, or sex-linked pattern. Its prevalence is 1:4,000 individuals, with more than one million people affected worldwide.
The DBGen Retinitis Pigmentosa Panel includes the genetic study of the coding regions of 154 genes and 120 pathogenic variants in non coding regions.
12 – 14 weeks