Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia

Background: Congenital fibrosis of the extraocular muscles (CFEOM) is a rar e condition that has been traditionally regarded as a primary eye muscle di sease. Recent studies, however, suggest that CFEOM may be the result of a p rimary neuropathy with secondary myopathic changes. Purpose: To describe a previously unrecognized association between congenit al fibrosis of the extraocular muscles and structural abnormalities of the brain. Design: Small case series. Methods: Detailed clinical examinations and neuroradiologic studies were pe rformed on the three affected family members. In addition, genetic analysis of the family was performed. Results: The three affected family members, mother and two children, have t he ocular features of 'classic' congenital fibrosis of the extraocular musc les, All showed dilation of the left lateral ventricle secondary to hypopla sia of the body and tail of the ipsilateral caudate nucleus. There was fusi on of an enlarged caudate nucleus head with the underlying putamen, Both ch ildren showed widespread bilateral cortical dysplasia, Genetic analysis of the family was inconclusive but consistent with linkage to the CFEOM1 locus on chromosome 12, Chromosomal analysis of the affected individuals did not show evidence of a deletion of chromosome 12 and haplotype analysis was no t suggestive of a microdeletion. Conclusions: Cerebral cortical and basal ganglia maldevelopment can be foun d in individuals with CFEOM, This suggests that neuroimaging should be cons idered in the initial diagnostic evaluation of these patients, particularly if there is developmental delay, Ophthalmology 2001;108:1313-1322 (C) 2001 by the American Academy of Ophthalmology.