Senior-Løken syndrome
In a nutshell
Senior-Løken syndrome (SLS) is a rare autosomal recessive disorder characterized by the combination of nephronophthisis (which starts in childhood) and retinal degeneration. It is estimated that if affects about 1 in 1 million people worldwide.
Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. ESRD is a progressive kidney disease that leads to end-stage renal failure.
Retinal degeneration resembles Leber congenital amaurosis or retinitis pigmentosa, resulting in progressive vision loss.
Causes and Genetics
Senior-Loken Syndrome is caused by a faulty gene involved in the production of cilia including NPHP1, NPHP4, NHPH5, IQCB1, NPHP6, CEP290 and SDCCAG8
The condition is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for a child to be affected.
Diagnosis
Diagnosis typically involves clinical evaluation, imaging, and genetic testing.
Treatment
Treatment focuses on managing chronic kidney disease and optimizing remaining vision.
Support
Senior-Loken Syndrome (SLS) group on Facebook
Last reviewed: July 2026