The PDE6A gene encodes a subunit of the rod phosphodiesterase. The loss of this enzyme
function leads to a chronically elevated cGMP level which causes an increased calcium inflow
into the cell and thereby the hyperactivation of cell death pathways. The goal of the PIGMENT
study is to develop, produce and investigate a recombinant adeno-associated viral (AAV) gene
transfer vector for the curative therapy of PDE6A-linked retinitis pigmentosa in patients, in
order to counteract their disease progression and to stop further impairment of visual
function. The vector is given with a single subretinal injection.