title: Brain imaging studies in Leber's congenital amaurosis: new radiologic findings associated with the complex trait.
abstract: OBJECTIVE
  To report the incidence and new findings of abnormal brain imaging studies associated with patients initially diagnosed with Leber's congenital amaurosis (LCA) without definite systemic abnormalities and to determine the need for brain imaging studies in these patients.
  
  
  METHODS
  A retrospective review of medical records was performed in 83 patients initially diagnosed as LCA and without definite systemic abnormalities before the age of 6 months in 2 tertiary referral centers. Brain magnetic resonance imaging was performed in 31 of 83 patients (37.3%).
  
  
  RESULTS
  Six of 31 patients (19%) had radiologically documented brain abnormalities. Two patients had cerebellar vermis hypoplasia, 1 patient showed an absence of septum pellucidum, 2 subjects showed mild external hydrocephalus, and 1 patient was found to have a small cerebellum.
  
  
  CONCLUSIONS
  Approximately one fifth of the LCA patients in whom brain imaging was performed were associated with brain abnormalities, including the absence of septum pellucidum, which has not been documented in the literature. Brain imaging is mandatory in patients primarily diagnosed with LCA, even without definite neurologic or systemic abnormalities.
authors.affiliation: Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Hee Kyung
authors.initials: HK
authors.lastname: Yang
authors.forename: Jeong-Min
authors.initials: JM
authors.lastname: Hwang
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: Young Suk
authors.initials: YS
authors.lastname: Yu
mesh_terms: D001921:Brain / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology; D066298:In Vitro Techniques; D007223:Infant; D057130:Leber Congenital Amaurosis / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D012189:Retrospective Studies; D012688:Septum Pellucidum / Q000473:pathology