Juvenile Neuronal Ceroid Lipofuscinosis in a Patient of Iranian Origin

Introduction: Juvenile neuronal ceroid lipofuscinoses (JNCL) is a rare clinical condition especially in Asian population. Case Presentation: We report an 8-year-old female with a history of the progressive deterioration of vision loss, mental retardation, seizures and severe physical disabilities since 3 years before admission. Fundus examination revealed bilateral optic atrophy, bull’s eye maculopathy, reduced or absent electroretinogram (ERG) signals and attenuation of the retinal blood vessels. The diagnosis was confirmed by genetic detection of the mutation along with multifocal electroretinogram scans and visual evoked potential (VEP). Conclusion: To the best of our knowledge, the current study is the first to explain a patient of Iranian origin. Consequently, although there is no treatment for the disease, genetic consults can help to prevent new affected cases from heterozygote parents.

Keywords:

Electroretinogram , Juvenile neuronal ceroid lipofuscinoses , Visual evoked potential (VEP) , Visual loss