| Title |
Vision Loss as the Presenting Sign in Juvenile Neuronal Ceroid Lipofuscinosis |
| Creator |
Bohra, LI; Weizer, JS; Lee, AG; Lewis, RA |
| Affiliation |
Cullen Eye Institute, Baylor College of Medicine, Houston, Texas, USA. |
| Abstract |
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. |
| Subject |
Age of Onset; Blindness/diagnosis; Ceroid/analysis; Child; Child, Preschool; Conjunctiva/chemistry; Electroretinography; Female; Humans; Infant; Intelligence Tests; Lipofuscin/analysis; Male; Neuronal Ceroid-Lipofuscinoses/diagnosis; Ophthalmoscopy; Visual Acuity |
| Format |
application/pdf |
| Publication Type |
Journal Article |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher |
Lippincott, Williams & Wilkins |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
© North American Neuro-Ophthalmology Society |
| Setname |
ehsl_novel_jno |
| ID |
225029 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s60p452w/225029 |
