LEBER-CONGENITAL-AMAUROSIS - DIFFERENTIAL-DIAGNOSIS, OPHTHALMOLOGICALAND NEURORADIOLOGICAL REPORT OF 18 PATIENTS

Between 1985 and 1995 eighteen babies, presenting to our department wi th absent visual contact and roving eye movements, showed a non-record able flash electroretinogram (fERG). This was confirmed when repeated after a one-year interval. In four patients with developmental delay a n underlying systemic disorder was diagnosed after a thorough pediatri c neurological evaluation: Senior Loken syndrome, neuroaxonal dystroph y, 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 t hem showed developmental delay. Ln all three cerebellar abnormalities were visualized on brain computed tomography (CT) and/or magnetic reso nance imaging (MRI). Brain CT of the other eleven patients with age ap propriate development was normal. We conclude that LCA is a diagnosis of exclusion and a cautious approach with a thorough history and pedia tric neurological examination is necessary to exclude a more global pe diatric neurological disorder.