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E.I. Traboulsi; An Undescribed Autosomal Recessive Form of Strabismus with Features of Duane Syndrome and Congenital Fibrosis of the Extraocular Muscles . Invest. Ophthalmol. Vis. Sci. 2003;44(13):2756.
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Purpose:To report a family with a previously undescribed form of congenital strabismus. Methods: Clinical examination and surgery on four affected members of a family comprised of four affected siblings, four unaffected siblings and consanguineous parents. Results: Two brothers and two sisters (ages 4 - 17 years) had congenital bilateral esotropia. The clinical manifestations were identical in all four patients. There was no ptosis. Abduction was severely limited bilaterally. Vertical ocular movements were normal. There was adduction of the eye that attempted abduction on lateral gaze. Visual acuity was very good in all patients, reflecting probable alternating fixation. Forced duction testing under general anesthesia revealed severe limitation to abduction and very tight medial rectus muscles in all patients. Bilateral medial rectus recession resulted in good ocular alignment in primary position of gaze without any alteration of the abnormal ocular movement pattern. Conclusions: This family appears to have an undescribed autosomal recessive form of an ocular motility disorder that shares features of Duane syndrome and congenital fibrosis of the extraocular muscles. Genetic mapping and candidate gene analysis studies are underway.
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