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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Clinical diversity of hereditary Duane's retraction syndrome.

OBJECTIVE: To define the spectrum of ophthalmic manifestations of Duane's retraction syndrome ( DRS) in a large family. DESIGN: Cross-sectional study of 110 among 114 living relatives in an extended family. METHODS: History and ophthalmic examination obtained on all participants. MAIN OUTCOME MEASURES: Ocular motility, strabismus, visual acuity, binocularity, associated neurologic problems. RESULTS: Twenty-five individuals were affected with DRS. Twenty-four subjects (96%) had bilateral DRS, but there was a broad spectrum of severity. Strabismus occurred in 76% and amblyopia in 48%. Associated findings included fourth cranial nerve palsy, partial third cranial nerve palsy, nystagmus, seizures, and deafness. Fourth cranial nerve palsies and manifest strabismus tended to cluster within single family units. CONCLUSIONS: Strabismus and amblyopia are much more common with bilateral DRS than with unilateral DRS. There is much phenotypic variability among individuals within families with hereditary Duane's syndrome. The responsible gene(s) may affect the development of many cranial nerves. Genetic compounding may play a role in the phenotypic segregation seen within this large family.[1]


  1. Clinical diversity of hereditary Duane's retraction syndrome. Chung, M., Stout, J.T., Borchert, M.S. Ophthalmology (2000) [Pubmed]
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