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Title: Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients
Authors: Casteels, Ingele ×
Spileers, Werner
Demaerel, Philippe
Casaer, Paul
De Cock, Paul
Dralands, Godelieve
Missotten, Luc #
Issue Date: Feb-1997
Series Title: Neuropediatrics vol:27 issue:4 pages:189-93
Abstract: Between 1985 and 1995 eighteen babies, presenting to our department with absent visual contact and roving eye movements, showed a non-recordable flash electroretinogram (fERG). This was confirmed when repeated after a one-year interval. In four patients with developmental delay an underlying systemic disorder was diagnosed after a thorough pediatric neurological evaluation: Senior Loken syndrome, neuroaxonal dystrophy, ceroid lipofuscinosis and a yet unclear metabolic disorder were the revised diagnoses. The fourteen remaining patients were diagnosed as having primary idiopathic Leber Congenital Amaurosis (LCA). Three of them showed developmental delay. In all three cerebellar abnormalities were visualized on brain computed tomography (CT) and/or magnetic resonance imaging (MRI). Brain CT of the other eleven patients with age appropriate development was normal. We conclude that LCA is a diagnosis of exclusion and a cautious approach with a thorough history and pediatric neurological examination is necessary to exclude a more global pediatric neurological disorder.
ISSN: 0174-304X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Ophthalmology
Section Child - Miscellaneous (-)
Faculty of Medicine - miscellaneous
Brain & Metabolism Section (-)
Translational MRI (+)
Alumni, Faculty of Medicine
Youth Health (-)
× corresponding author
# (joint) last author

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