Senior-Loken syndrome is a very rare autosomal recessive disorder characterized by the combination of two primary features: nephronophthisis (NPH), a chronic kidney disease, and Leber congenital amaurosis (LCA), a retinal dystrophy. This is a deleterious disease which leads to blindness and eventually, to end stage renal failure. Affected patients invariably progress to end stage renal failure, usually before the age of 20-years.
Senior-Loken syndrome has been reported in many cases worldwide, with the prevalence being estimated at around 1 in 1,000,000. To date, no definite treatment is available to prevent progression to visual loss.