ocular motor apraxia, Cogan type
Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.
MONDO:0005328
eye disorder
is_a
COMA
related
Cogan's syndrome type 2
related
congenital oculomotor apraxia
related
oculomotor apraxia Cogan type
related
oculomotor apraxia, Cogan type
exact
oculomotor apraxia, congenital, Cogan-type
exact
saccade initiation failure congenital
related