title: Duane retraction syndrome in a patient with Duchenne muscular dystrophy.
abstract: We describe the clinical features of a boy with bilateral Duane retraction syndrome (DRS), Duchenne muscular dystrophy (DMD), and other medical problems.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors: a Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.
authors: Thomas M
authors: TM
authors: Bosley
authors: b Department of Pediatrics (Neurology Division) , College of Medicine, King Saud University , Riyadh , Saudi Arabia.
authors: Mustafa A
authors: MA
authors: Salih
authors: c Department of Pathology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.
authors: Hisham
authors: H
authors: Alkhalidi
authors: d Division of Ophthalmology, Faculty of Health Sciences , University of Stellenbosch , Tygerberg , South Africa.
authors: Darren T
authors: DT
authors: Oystreck
authors: b Department of Pediatrics (Neurology Division) , College of Medicine, King Saud University , Riyadh , Saudi Arabia.
authors: Heba Y
authors: HY
authors: El Khashab
authors: a Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.
authors: Altaf A
authors: AA
authors: Kondkar
authors: a Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.|e Department of Ophthalmology , College of Medicine, University of Florida , Jacksonville , Florida , USA.
authors: Khaled K
authors: KK
authors: Abu-Amero
mesh_terms: D000293:Adolescent; D004370:Duane Retraction Syndrome / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D016189:Dystrophin / Q000235:genetics; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
chemical_list: D016189:Dystrophin
keywords: Duane retraction syndrome; Duchenne muscular dystrophy; dystrophin; eye movements; muscular dystrophy