Familial congenital palsy of trochlear nerve

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Familial congenital palsy of trochlear nerve?

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