Left-sided Duane's syndrome and retinal coloboma associated with contralateral microphthalmia

Strabismus. 2007 Apr-Jun;15(2):113-7. doi: 10.1080/09273970701431418.


Case report of a 15-year-old girl presenting with a left-sided Duane's retraction syndrome (DURS) in combination with ipsilateral retinal coloboma and contralateral microphthalmia. Abduction limitation as well as narrowing of the palpebral fissure and globe retraction during attempted adduction (type I DURS) was demonstrated in the left eye. Additionally, a retinal coloboma was observed in the nasal inferior quadrant of the left eye. No other somatic or developmental abnormalities were observed and karyotypic analysis was normal. This is the first case of non-syndromic unilateral DURS associated with a contralateral major ocular malformation. This unusual clinical combination probably arose from the embryonic action of an eye-specific disruptor.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Adolescent
  • Coloboma / complications*
  • Duane Retraction Syndrome / complications*
  • Duane Retraction Syndrome / physiopathology
  • Female
  • Humans
  • Microphthalmos / complications*
  • Microphthalmos / pathology
  • Retina / abnormalities*