Two Brothers with Horizontal Gaze Palsy with Progressive Scoliosis

Michael Patti BHlthSc MOrth

Ophthalmology Department, Monash Health, Melbourne, Australia
Department of Surgery, School of Clinic Sciences at Monash Health, Monash University, Australia

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder, which results in complete absence of horizontal eye movements. Convergence is typically intact and pendular low amplitude nystagmus is a common presentation in patients with this condition. In 2015, the first reported Australian cases presented to an Ophthalmology Department in Melbourne. The two Chinese siblings were diagnosed with HGPPS and an absence of all forms of horizontal gaze, including saccadic, smooth pursuit and vestibule-ocular responses. The patients demonstrated the presence of pendular nystagmus, however convergence remained unimpaired. The two sibling’s rare genetic findings are compared with similar presentations located in literature worldwide.