Duane retraction syndrome associated with Rubinstein-Taybi syndrome

Ophthalmic Genet. 1995 Dec;16(4):171-5. doi: 10.3109/13816819509057859.


The authors present a case report of Duane retraction syndrome (DRS) associated with Rubinstein-Taybi syndrome (RTS). RTS is a multisystem condition characterized by psychomotor developmental delay, broad thumbs and great toes, short stature, and characteristic facies with a beaked nose. DRS is an ocular disorder characterized by retraction of the globe with narrowing of the palpebral fissure in attempted adduction, with abduction and/or adduction deficiency, and, frequently, upshoot or downshoot of the affected eye on adduction. The case report described represents the first reported case of DRS associated with RTS, an association not previously recognized. This association raises the possibility that the abnormal CNS development in RTS may occasionally involve the ocular motor nerves.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Duane Retraction Syndrome / etiology*
  • Duane Retraction Syndrome / pathology
  • Female
  • Humans
  • Karyotyping
  • Rubinstein-Taybi Syndrome / complications*
  • Rubinstein-Taybi Syndrome / pathology