Senior-Loken Syndromes

Background and History: 

Senior-Loken syndromes is discussed here as a group of disorders that have the common features of retinal and kidney disease.  Of course, both retinal disease and kidney disease also occur separately and may be inherited as well.  Aagot Christie Loken was a Norwegian neuropathologist and Boris Senior an African pediatrician.

Clinical Correlations: 

The retinal pigmentation seen in Senior-Loken syndrome is highly variable in appearance and age of onset.  Infants less than a year old may have severe visual difficulties with minimal changes visible in their retinas, but some patients may not experience visual difficulties until the second and third decades.  Many patients have severe constriction (loss of side vision) of their visual fields.

The kidney disease likewise is variable in the age of onset and rate of progression.  It may present as an anemia but in most cases excessive urination and thirst are the first symptoms.  Kidney failure eventually occurs as most of the kidney is replaced by cysts.


All of the disorders in this group are inherited in autosomal recessive patterns, in which each of the normal carrier parents with a single mutation contribute it to one-fourth of their children.

Diagnosis and Prognosis: 

Pediatricians, ophthalmologists and kidney specialists usually collaborate on this diagnosis.  The kidney disease is the most life-threatening and often requires a renal transplant.  The vision loss may require low vision aids which can enable better vision functioning.

Additional Information
Autosomal recessive