Vision Loss as the Presenting Sign in Juvenile Neuronal Ceroid Lipofuscinosis

OBJECTIVE:To review cases of juvenile neuronal ceroid lipofuscinosis (JNCL) and highlight salient clinical and diagnostic features, thereby enhancing recognition of this disease among ophthalmologists. MATERIALS AND METHODS:Twelve cases of JNCL seen from 1982 to 1999 were reviewed. Diagnosis was based on characteristic clinical history, ophthalmoscopic findings, electroretinography, neuroimaging, histopathology, and molecular analysis. RESULTS:Vision loss was the first subjective symptom of the disease in all 12 cases. Among these cases, nine of 12 patients (75%) developed neurologic deficits an average of 3 years after the onset of visual deterioration. CONCLUSION:Because visual symptoms usually precede neurologic dysfunction, JNCL should be considered in the differential diagnosis when an apparently healthy child presents with unexplained bilateral vision loss.