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M. Harissi-Dagher, M. Aroichane; Congenital Fibrosis of the Extra-ocular Muscles with Brainstem Abnormalities: A Novel Finding . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1941.
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Purpose: Congenital fibrosis syndrome is a rare group of congenital anomalies of the extra-ocular muscles characterized by replacement of the muscles by fibrous tissue. We describe three cases of children, different from any previously reported, with congenital fibrosis of the extra-ocular muscles and associated brainstem abnormalities. Methods: Retrospective case review of three patients with congenital fibrosis of the extra-ocular muscles and brainstem abnormalities followed in neuro-ophthalmology. Clinical ophthalmologic evaluation, radiological exams, and intra-operative findings of the three patients are presented. Results: Three children with unremarkable peri-natal history presented from birth with a non-progessive ocular motility disorder. Their disorder was characterized by restrictive external ophthalmoplegia, strabismus, ptosis and amblyopia. Forced duction tests were positive intra-operatively. Computed tomography and magnetic resonance imaging studies revealed midbrain and pons atrophy. Orbital imaging, however, was within normal limits. Conclusions: The coexistence of congenital ocular fibrosis and brainstem abnormalities demonstrated on radiological exams raises the possibility that the ocular condition may be secondary to a neurological disease process occurring prior to birth. Both neuropathologic and genetic studies have been reported that support the hypothesis that congenital ocular fibrosis results from aberrant development of motor nuclei in the midbrain and pons. Our study re-enforces this hypothesis by providing macroscopic radiological evidence of brainstem anomalies.
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