Abstract
Nineteen obligate heterozygotes, 8 individuals at risk of being heterozygote, and 10 patients afflicted with four different forms of neuronal ceroid lipofuscinosis were examined electrophysiologically. The group of obligate heterozygotes was compared to age-matched control groups. Statistically significant differences were found between scotopic b-wave amplitudes, P-ERG amplitudes, and EOG light peaks of the obligate carriers of the juvenile type and the control subjects. The photopic L-ERGs and the latencies of the VEPs were mostly within the normal range. The findings represent the first evidence of functional ophthalmological changes in obligate carriers of neuronal ceroid lipofuscinosis and demonstrate that heterozygotes with certain hereditary autosomal recessive diseases may manifest subtle functional signs.
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This study was supported by the Deutsche Retinitis Pigmentosa Gesellschaft and the Deutsche Forschungsgemeinschaft.
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Gottlob, I., Leipert, K.P., Kohlschütter, A. et al. Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes. Graefe's Arch Clin Exp Ophthalmol 226, 516–521 (1988). https://doi.org/10.1007/BF02169198
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DOI: https://doi.org/10.1007/BF02169198