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CASE REPORT
Year : 2021  |  Volume : 1  |  Issue : 2  |  Page : 357-359

The tale of two siblings with gaze palsy: More than meets the eye


1 Department of Pediatric Ophthalmology, Strabismus, and Neuro-ophthalmology, Child Sight Institute, Nimmagada Prasad Children's Eye Care Centre, L V Prasad Eye Institute, GMRV Campus, Visakhapatnam, Andhra Pradesh, India
2 Academy of Eye Care Education, Department of Pediatric Ophthalmology, Strabismus, and Neuro-ophthalmology, Child Sight Institute, Nimmagada Prasad Children's Eye Care Centre, Visakhapatnam, Andhra Pradesh, India
3 Citi Neuro Center, Hyderabad, Telangana, India
4 Department of Pediatric Ophthalmology, Strabismus, and Neuro-ophthalmology, Child Sight Institute, David Brown Children's Eye Care Centre, L V Prasad Eye Institute, KVC Campus, Vijaywada, Andhra Pradesh, India
5 Consultant in Pediatric and Neuro-ophthalmology at LV Prasad Eye Institute, Child Sight Institute, Jasti V Ramanamma Children's Eye Care Centre, KAR Campus, Hyderabad, Telangana, India; UPMC Children's Hospital, Pittsburgh, PA 15224, USA

Correspondence Address:
Dr. Preeti Patil-Chhablani
Consultant in Pediatric and Neuro-ophthalmology at UPMC Children's Hospital, Pittsburgh, PA 15224

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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_1663_20

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Horizontal gaze palsy and progressive scoliosis (HGPPS) is an autosomal recessive disease with a mutation in the ROBO3 gene. Features include horizontal gaze palsy, preserved vertical eye movements, and convergence. Progressive scoliosis is present in all patients. On MRI, HGPPS is characterized by brainstem hypoplasia, bifid medulla, split pons sign, and absence of facial colliculi. We report two siblings who presented with characteristic ocular and neuroimaging features of HGPPS but no scoliosis. The diagnosis was confirmed by neuroimaging and genetic analysis. This case report highlights the role of suspecting HGPPS in children with gaze palsy and characteristic neuroimaging findings even when there is an absence of clinical manifestation of scoliosis. Subsequent referral should be made to the orthopedician to rule out scoliosis both clinically and radiologically.


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