Horizontal gaze palsy with progressive scoliosis

Last revised by Craig Hacking on 11 Aug 2020

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disease.

Abnormal horizontal gaze while normal vertical gaze and kyphoscoliosis. Horizontal gaze requires the action of ipsilateral abducent nerve and contralateral oculomotor nerve and mediated by the abducens nucleus. In this condition, there is congenital absence of the abducens nucleus results in abnormal horizontal gaze.

It is caused by mutation of ROBO3 gene on chromosome 11.

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