see also : Joubert, syndrome and Nephronophthisis

(Familial juvenile nephronophthisis with ocular anomalies, Senior-Biochi syndrome, Senior-Loken syndrome)

Rare: represents 10-15 % of cases of nephronophthisis.  Autosomal recessive transmission of a mutation of gene NPHP5 (3q21) encoding the IQCB protein..

Associates:

-          rapidly progressing renal failure (< 10 years) : it is a high urine output renal failure due to    

    an inability to concentrate urine.

-        retinitis pigmentosa: two forms: an early-onset form which includes a congenital Leber amaurosis with blindness at birth, and a late form which is manifested by night vision disturbances and which progresses more slowly.

Abnormality of integrin 6 in the renal tubules : imaging reveals many cysts.

Anesthetic implications:

monitor renal function; check for anemia and/or hemodialysis.

References:

-        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: January 2019