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

J AAPOS. 2014 Aug;18(4):389-91. doi: 10.1016/j.jaapos.2014.02.011. Epub 2014 Jun 24.

Abstract

Children affected by infantile esotropia can cross-fixate to see object to the contralateral side with the adducted eye; when doing so they need not abduct the eye ipsilateral to the object and thus can appear to have abduction defects. Less commonly, an esotropic child is truly unable to abduct and cross-fixates to allow side gaze. We report the case of a 10-month-old girl with cross-fixation and inability to abduct who was genetically proven to have horizontal gaze palsy with progressive scoliosis (recessive ROBO3 mutations). Clinical assessment of her elder brother, previously diagnosed with bilateral type 3 Duane retraction syndrome, revealed that he was actually affected by the same disease. We highlight this rare ocular motility disorder as part of the differential diagnosis of early childhood esotropia with cross-fixation and inability to abduct and how examination of an affected sibling can facilitate proper diagnosis of genetic eye disease.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Consanguinity
  • Esotropia / complications*
  • Esotropia / diagnosis
  • Esotropia / genetics
  • Eye Movements / physiology*
  • Female
  • Fixation, Ocular / physiology*
  • Humans
  • Infant
  • Male
  • Mutation / genetics
  • Ocular Motility Disorders / complications*
  • Ocular Motility Disorders / diagnosis
  • Ocular Motility Disorders / genetics
  • Ophthalmoplegia, Chronic Progressive External / complications*
  • Ophthalmoplegia, Chronic Progressive External / diagnosis
  • Ophthalmoplegia, Chronic Progressive External / genetics
  • Receptors, Cell Surface
  • Receptors, Immunologic / genetics
  • Scoliosis / complications*
  • Scoliosis / diagnosis
  • Scoliosis / genetics

Substances

  • ROBO3 protein, human
  • Receptors, Cell Surface
  • Receptors, Immunologic

Supplementary concepts

  • Gaze Palsy, Familial Horizontal, with Progressive Scoliosis