Abstract

Aims: To ascertain the clinical and electrophysiological features in patients with juvenile neuronal ceroid lipofuscinosis (jNCL/Batten disease) and to identify those features that facilitate early diagnosis.

Methods: Nine patients with jNCL were identified retrospectively and their case notes reviewed. All had undergone an extensive clinical examination, including electrophysiology. Blood and molecular genetic testing confirmed the diagnosis.

Results: Age at onset ranged from 4–8 years. At presentation, two of nine patients had normal fundi; only two of nine patients had a bull’s eye maculopathy. The electroretinogram (ERG) findings in this series included undetectable rod specific ERGs, an electronegative maximal response, reduced and delayed cone flicker ERGs, reduction in the b:a ratio in the photopic single flash ERG, and an undetectable pattern ERG. Vacuolated lymphocytes on peripheral blood film testing were present in eight of nine patients. Five of eight patients were homozygous for the 1.02 kb deletion on the CLN3 gene on molecular genetic testing; two of eight patients were heterozygous for that deletion.

Conclusion: jNCL should be considered in children of 10 years and under presenting with visual loss and fundal changes ranging from normal through to pigmentary/atrophic changes or a bull’s eye maculopathy. Electrophysiology may suggest jNCL. Although currently untreatable, early diagnosis is important to institute appropriate counselling and support.