| Literature DB >> 31741681 |
Abstract
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder. The ROBO 3 gene mutation is responsible for the disease. We present a boy aged 12 years who was admitted for scoliosis surgery who had also had horizontal gaze palsy since birth. His brainstem abnormalities were compatible with the syndrome of HGPPS. HGPPS is one of the rare congenital diseases of childhood. Horizontal gaze palsy, ametropia, and progressive scoliosis are the main findings of the disease. This syndrome should be kept in mind for both ophthalmologists and orthopaedic surgeons in patients who present with gaze palsy and scoliosis. Early diagnosis of scoliosis makes it possible to treat the disease at an early stage, and early diagnosis of ametropia is important in the prevention of amblyopia.Entities:
Keywords: Horizontal gaze palsy; ROBO3; progressive scoliosis
Year: 2019 PMID: 31741681 PMCID: PMC6844527 DOI: 10.1080/01658107.2018.1520901
Source DB: PubMed Journal: Neuroophthalmology ISSN: 0165-8107