title: [Ocular coloboma and results of brain MRI: preliminary results].
abstract: BACKGROUND
  Congenital ocular colobomas are the result of a failure in closure of the embryonal fissure. We present a prospective study (2007-2011) in which we report brain MRI findings in children with ocular coloboma.
  
  
  METHODS
  Thirty-five children (54 eyes) were included; 15 boys, 20 girls with a median age of 24.0 months (1.0-96.0) at first presentation. Within 2 to 3 months following complete ophthalmologic examination, brain MRI was performed.
  
  
  RESULTS
  Colobomas were bilateral in 19 cases and unilateral in 16 cases. Eleven different types of coloboma were identified. Of 54 eyes, 74% demonstrated optic nerve coloboma, of which 28 were severe. Of 35 MRI's performed, abnormalities were present in 86%: gyration abnormalities (n=21), lateral ventricular dilatation (n=17), dilatation of the Virchow-Robin and subarachnoid spaces (n=14), signal abnormalities and brain stem malformations (n=14), white matter signal abnormalities (n=11), corpus callosum abnormalities (n=10). Most of these abnormalities were related. Gyration abnormalities were the most frequent. There was no significant association between the severity of the coloboma and the abnormalities found (P=1.0). Likewise, there was no significant association of gyration abnormalities with the severity of coloboma in children (P=1.0).
  
  
  CONCLUSIONS
  This study shows, for the first time, the existence of frequent cerebral abnormalities on MRI in children with ocular coloboma. The most common abnormality being gyration abnormalities, in 60% of cases.
authors.affiliation: Service d'ophtalmologie, hôpital Nord, chemin des Bourrely, 13915 Marseille cedex 20, France. daniele.denis@ap-hm.fr
authors.forename: D
authors.initials: D
authors.lastname: Denis
authors.forename: N
authors.initials: N
authors.lastname: Girard
authors.forename: A
authors.initials: A
authors.lastname: Levy-Mozziconacci
authors.forename: J
authors.initials: J
authors.lastname: Berbis
authors.forename: F
authors.initials: F
authors.lastname: Matonti
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology*; D000869:Anterior Eye Segment / Q000002:abnormalities / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D001933:Brain Stem / Q000002:abnormalities / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities / Q000473:pathology; D002552:Cerebral Ventricles / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002829:Choroid / Q000002:abnormalities / Q000473:pathology; D003103:Coloboma / Q000196:embryology / Q000473:pathology*; D003337:Corpus Callosum / Q000473:pathology; D005123:Eye / Q000196:embryology; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005801:Genes, Homeobox; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008954:Models, Biological; D009900:Optic Nerve / Q000002:abnormalities / Q000473:pathology; D011446:Prospective Studies; D012160:Retina / Q000002:abnormalities / Q000473:pathology; D013346:Subarachnoid Space / Q000002:abnormalities / Q000473:pathology