Familial congenital palsy of trochlear nerve
Alternate names
Trochlear nerve palsy, familial congenital; Superior oblique oculomotor palsy, familial congenital; Strabismus from superior oblique palsy
Definition
Familial congenital palsy of trochlear nerve is a rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported.
NIH genetic and rare disease info
Familial congenital palsy of trochlear nerve is a rare disease.
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