Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction

Strabismus. 2015;23(1):33-5. doi: 10.3109/09273972.2014.999797. Epub 2015 Jan 12.

Abstract

Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD).

Keywords: Brown syndrome; Duane syndrome; congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs); inferior oblique muscle; ocular movement restriction; ptosis.

Publication types

  • Case Reports

MeSH terms

  • Blepharoptosis / congenital*
  • Blepharoptosis / diagnosis
  • Child
  • Cranial Nerves / abnormalities*
  • Eye Movements
  • Female
  • Humans
  • Ocular Motility Disorders / diagnosis
  • Ocular Motility Disorders / etiology*
  • Oculomotor Muscles / innervation*