See also, Joubert, syndrome and nephronophthisis

Very rare. Autosomal recessive transmission. 

Association of:

-         abnormalities of the development of median brain structures: agenesis of the cerebellar vermis (ataxia); 

-         ocular abnormalities 

-         cystic malformation of the kidneys similar to juvenile nephronophthisis

-         and sometimes cholestasis with hepatic fibrosis 

Anesthetic implications: 

check hepatic and renal functions 

Références : 

-        Turagal MK, Velagapudi P, Holley JL. 
Senior-Loken and other renal-retinal syndromes : a case report and review. 
Int J Nephrol Urol 2009; 1: 143-52. 

Updated: November 2019