Cogan type II, syndrome

see nephronophthisis 

(Cogan type congenital oculomotor apraxia)

Very rare. Autosomal recessive transmission. A mutation of the NPHP1 gene (2q12-q13) is found in some cases. Abnormal eye movements (oculomotor apraxia): the child has difficulty to slowly track an object: the eyes make jerky movements. To compensate for this, the child turn his head further in the direction of the object he wants to follow. The affection may improve during the first two decades but remains a handicap for school learning.

There is sometimes hypotonia, ataxia, hypoplasia or aplasia of the cerebellar vermis (similar to Joubert syndrome), juvenile type nephronophthisis, mental retardation.


Anesthetic implications: 

check renal function


References : 


Updated: October 2019