Senior-Loken Syndrome

Senior-Loken Syndrome (or Leber Congenital Amaurosis with Nephronophthisis) is a rare ciliopathic and autosomal recessive disorder, characterized by nephronophthisis and an early onset rod-cone retinal dystrophy of the Leber congenital amaurosis type. Retinal abnormalities manifest as congenital retinal blindness or retinitis pigmentosa. The gene most frequently mutated in Senior-Loken Syndrome is IQCB1/NPHP5.

Fundus findings are abundant pigmented spicules at the retinal periphery, associated with retinal pigment epithelium atrophy.

Clinical manifestations include cerebellar ataxia and skeletal abnormalities (cone epiphyses).