Horizontal Gaze Palsy and Progressive Scoliosis With ROBO 3 Mutations in Patients From Cape Verde

J Neuroophthalmol. 2017 Jun;37(2):162-165. doi: 10.1097/WNO.0000000000000455.

Abstract

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare and autosomal recessive syndrome. We describe 2 cases of HGPPS which are the first documented in patients of African ancestry from an isolated population in Cape Verde. They demonstrated typical findings on neuro-ophthalmic examination and brain magnetic resonance imaging. One patient had novel heterozymous mutations of the ROB0 3 gene.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain Stem / pathology*
  • Cabo Verde
  • Child
  • DNA / genetics*
  • DNA Mutational Analysis
  • Disease Progression
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Nerve Tissue Proteins
  • Ocular Motility Disorders / diagnosis
  • Ocular Motility Disorders / etiology*
  • Ocular Motility Disorders / physiopathology
  • Ophthalmoplegia, Chronic Progressive External / complications*
  • Ophthalmoplegia, Chronic Progressive External / diagnosis
  • Pedigree
  • Receptors, Cell Surface
  • Receptors, Immunologic / genetics*
  • Receptors, Immunologic / metabolism
  • Scoliosis / complications*
  • Scoliosis / diagnosis

Substances

  • Nerve Tissue Proteins
  • ROBO3 protein, human
  • Receptors, Cell Surface
  • Receptors, Immunologic
  • DNA

Supplementary concepts

  • Gaze Palsy, Familial Horizontal, with Progressive Scoliosis