Ophthalmological abnormalities in children with cerebral white matter disorders

The use of magnetic resonance imaging (MRI) in children with severe neurological impairment has defined a subgroup with increased T2-signals from cerebral white matter. The causes of white matter abnormalities are for the most part unknown, despite extensive investigation. Their clinical correlates and characteristics have still to be systematically analysed and described. We have compared clinical, ophthalmological and electro-ophthalmological findings in such children to delineate neurological and MRI patterns and have sought to correlate with the progression of disease. Clinical and electro-ophthalmological investigations were performed in 26 children with cerebral white matter abnormalities of unknown aetiology; 25 of the 26 children showed abnormalities, 23 clinical and 18 electro-ophthalmological. Optic nerve abnormalities, severe visual impairment and strabismus were the most common. Electro-ophthalmological abnormalities were increased latencies and abnormal waveform of the visual evoked potentials (VEP). Children with progressive disease all had abnormal VEP, whereas none of the ten children with a normal VEP deteriorated. We conclude that children with cerebral white matter abnormalities almost invariably had ophthalmological and often VEP abnormalities. Normal VEP was correlated with non-progressive disorder, as was hypoplasia or malformation of the papilla, whereas abnormal VEP were associated with progressive disease.