Case Reports in Ophthalmological Medicine (Jan 2011)

Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

  • Mihir Kothari,
  • Florence Manurung,
  • Bhavesh Mithiya

DOI
https://doi.org/10.1155/2011/784259
Journal volume & issue
Vol. 2011

Abstract

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Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.