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.
Leber congenital amaurosis - Magnetic resonance imaging - Brain general development
