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.
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.
Authors: Cristy A Ku; Sarah Hull; Gavin Arno; Ajoy Vincent; Keren Carss; Robert Kayton; Douglas Weeks; Glenn W Anderson; Ryan Geraets; Camille Parker; David A Pearce; Michel Michaelides; Robert E MacLaren; Anthony G Robson; Graham E Holder; Elise Heon; F Lucy Raymond; Anthony T Moore; Andrew R Webster; Mark E Pennesi Journal: JAMA Ophthalmol Date: 2017-07-01 Impact factor: 7.389
Authors: Silène T Wavre-Shapton; Alessandra A Calvi; Mark Turmaine; Miguel C Seabra; Daniel F Cutler; Clare E Futter; Hannah M Mitchison Journal: Hum Mol Genet Date: 2015-10-08 Impact factor: 6.150