Duane retraction syndrome in a patient with Duchenne muscular dystrophy

Thomas M. Bosley, Mustafa A. Salih, Hisham Alkhalidi, Darren T. Oystreck, Heba Y. El Khashab, Altaf A. Kondkar, Khaled K. Abu-Amero

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


ABSTRACT: Purpose: We describe the clinical features of a boy with bilateral Duane retraction syndrome (DRS), Duchenne muscular dystrophy (DMD), and other medical problems. Methods: The child was followed-up for five years; his chart was reviewed, including the results of a muscle biopsy and genetic testing. Multiplex ligation-dependent probe amplification (MLPA) was used to interrogate deletions/duplications in the dystrophin gene. Results: The proband had bilateral DRS with otherwise normal ocular motility; he also had developmental delay, mild mental retardation, and seizures. Clinical diagnosis of DMD included progressive proximal weakness, highly elevated creatine kinase levels, and a muscle biopsy showing significant dystrophic changes including contracted, degenerative, and regenerative fibers, and negative dystrophin immunostaining. MLPA documented duplication of exons 3 and 4 of the dystrophin gene. Conclusions: This boy is the third patient to be reported with DRS and DMD, the second with bilateral DRS and the only one with other neurologic features. Mutated dystrophin is present in extraocular muscles and in the central nervous system (CNS) in DMD, leaving open the question of whether this co-occurrence is the result of the genetic muscle abnormality, CNS effects caused by dystrophin mutations, or chance.

Original languageEnglish (US)
Pages (from-to)276-280
Number of pages5
JournalOphthalmic genetics
Issue number3
StatePublished - Jul 2 2016
Externally publishedYes


  • Duane retraction syndrome
  • Duchenne muscular dystrophy
  • dystrophin
  • eye movements
  • muscular dystrophy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)


Dive into the research topics of 'Duane retraction syndrome in a patient with Duchenne muscular dystrophy'. Together they form a unique fingerprint.

Cite this