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Orthopaedic Proceedings
Vol. 94-B, Issue SUPP_XXVII | Pages 24 - 24
1 Jun 2012
Berk RH Berk AT Kosay C Akcali O Engle E
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Introduction

Horizontal gaze palsy (HGP) in association with scoliosis has been reported in both orthopaedic and ophthalmological published work. Juvenile progressive scoliosis in combination with HGP is caused by a malfunction of the normal control mechanism for equilibrium related to the lower brain stem, mostly associated with ROBO3 gene mutation.

The aim of this study is to establish the association of scoliosis and HGP.

Methods

13 cases (four families and three sporadic cases) with HGP and scoliosis were documented; other systemic and ocular associated findings were identified and genetic counselling was done. All patients had radiograph of the spine, cranial and spinal cord MRI, chromosome analysis, gene analysis, and full ophthalmological examination. Blood samples were tested for ROBO3 gene mutation at Engle Laboratory, USA.