Literature DB >> 31741681

Horizontal Gaze Palsy with Progressive Scoliosis: A Case Report and Literature Review.

Ayse Dolar Bilge1.   

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.
© 2019 Taylor & Francis Group, LLC.

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


  17 in total

1.  The slit receptor Rig-1/Robo3 controls midline crossing by hindbrain precerebellar neurons and axons.

Authors:  Valérie Marillat; Christelle Sabatier; Vieri Failli; Eiji Matsunaga; Constantino Sotelo; Marc Tessier-Lavigne; Alain Chédotal
Journal:  Neuron       Date:  2004-07-08       Impact factor: 17.173

Review 2.  Horizontal gaze palsy with progressive scoliosis: CT and MR findings.

Authors:  Rodrigo C Bomfim; Daniel G F Távora; Mauro Nakayama; Rômulo L Gama
Journal:  Pediatr Radiol       Date:  2008-11-20

3.  Familial Horizontal Gaze Palsy With Progressive Scoliosis.

Authors:  Mohammad Rohani; Mostafa Almasi; Mostafa Soltan Sanjari
Journal:  Pediatr Neurol       Date:  2016-08-31       Impact factor: 3.372

4.  Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25.

Authors:  Joanna Jen; C J Coulin; T M Bosley; M A M Salih; C Sabatti; S F Nelson; R W Baloh
Journal:  Neurology       Date:  2002-08-13       Impact factor: 9.910

5.  Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations.

Authors:  Khaled K Abu-Amero; Hesham al Dhalaan; Zayed al Zayed; Ali Hellani; Thomas M Bosley
Journal:  J Neurol Sci       Date:  2008-10-01       Impact factor: 3.181

6.  Infantile esotropia with cross-fixation, inability to abduct, and underlying horizontal gaze palsy with progressive scoliosis.

Authors:  Arif O Khan; Khaled Abu-Amero
Journal:  J AAPOS       Date:  2014-06-24       Impact factor: 1.220

7.  Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis.

Authors:  Sven Haller; Stephan G Wetzel; Jürg Lütschg
Journal:  Neuroradiology       Date:  2008-05       Impact factor: 2.804

8.  Mutations in ROBO3 cause HGPPS.

Authors:  James Butcher
Journal:  Lancet Neurol       Date:  2004-06       Impact factor: 44.182

Review 9.  Oculomotility disorders arising from disruptions in brainstem motor neuron development.

Authors:  Elizabeth C Engle
Journal:  Arch Neurol       Date:  2007-05

10.  Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.

Authors:  Alexander E Volk; Oliver Carter; Julia Fricke; Peter Herkenrath; Jörg Poggenborg; Guntram Borck; Andre W Demant; Roland Ivo; Peer Eysel; Christian Kubisch; Antje Neugebauer
Journal:  Mol Vis       Date:  2011-07-20       Impact factor: 2.367

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