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Frederic Matonti, Nadine Girard, Annie Levy-Mozziconacci, Julie Berbis, Danièle Denis; Results Of Brain Mri In Ocular Coloboma: Preliminary Results. Invest. Ophthalmol. Vis. Sci. 2012;53(14):2087.
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Congenital ocular colobomas are the result of a failure in closure of the embryonal fissure during organogenesis. We present a prospective study (2007-2011) in which we report imaging findings in children with ocular coloboma
41 children (64 eyes) were included; 18 boys, 23 girls with media age of 24,0 months (1.0-90.0) at first presentation. 2 or 3 month following a complete ophthalmologic examination, cerebral MRI was performed
Coloboma was bilateral in 23 cases and unilateral in 18 cases. Eleven various types of coloboma were distinguished. Of 64 eyes, 74% had papillary coloboma including 28 severe colobomas. On 41 MRI, abnormalities were present in 86%: gyration abnormalities (N = 22), ventricular dilatation (N = 18), dilatation of the perivascular spaces (N = 15), signal abnormalities and malformation of the brain stem (N = 15), signal abnormalities of white matter (N = 12), abnormalities of corpus callosum (N = 11). Most of these abnormalities were related. Gyration abnormalities were the most frequent. There was no significant difference between the severity of coloboma and abnormalities found (p = 1.0). The same absence of significant difference was found between gyration abnormalities and the severity of coloboma in children (p = 1.0)
This study shows, for the first time, the existence of frequent cerebral abnormalities on MRI in children with eye coloboma with particularly gyration abnormalities
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