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Vision loss as the presenting sign in juvenile neuronal ceroid lipofuscinosis Bohra LI; Weizer JS; Lee AG; Lewis RAJ Neuroophthalmol 2000[Jun]; 20 (2): 111-5OBJECTIVE: 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.|Age of Onset[MESH]|Blindness/*diagnosis[MESH]|Ceroid/analysis[MESH]|Child[MESH]|Child, Preschool[MESH]|Conjunctiva/chemistry[MESH]|Electroretinography[MESH]|Female[MESH]|Humans[MESH]|Infant[MESH]|Intelligence Tests[MESH]|Lipofuscin/analysis[MESH]|Male[MESH]|Neuronal Ceroid-Lipofuscinoses/*diagnosis[MESH]|Ophthalmoscopy[MESH]|Visual Acuity[MESH] |
