Retinal degeneration: Molecular Pathology

The rod and cone photoreceptors in the retina of the eye are crucial for our vision, but also vulnerable to diseases, which can make them degenerate and die. Such diseases include Retinitis pigmentosa (RP), a heritable disease with a prevalence of about 1 in 3.000 – 4000 people. RP comes from gene mutations but it is not clear how these cause the degeneration and there are no therapies available. We are therefore investigating the mechanisms behind RP: The more that is known about these, the easier it will be to come up with good ideas for treatment strategies. In our research we use RP-models, for instance rd1. We have observed that an enzyme system, the cGMP system, plays a critical role in the degeneration and that cGMP levels are increased in the RP photoreceptors. The cGMP system is hence an interesting target for treatment, and a therapy development based on this has started. An important question that we now work with is: What is the high cGMP causing in the photoreceptors?