Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)
| Autor: | Qing Jun Wang, Mark E. Kleinman, Madhu M. Ouseph |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Batten disease
genetic structures business.industry General Neuroscience Disease progression Disease medicine.disease eye diseases General Biochemistry Genetics and Molecular Biology Disease etiology Pathogenesis 03 medical and health sciences 0302 clinical medicine History and Philosophy of Science CLN3 030221 ophthalmology & optometry medicine In patient Juvenile neuronal ceroid lipofuscinosis business Neuroscience 030217 neurology & neurosurgery |
| Zdroj: | Annals of the New York Academy of Sciences. 1371:55-67 |
| ISSN: | 0077-8923 |
| Popis: | Juvenile neuronal ceroid lipofuscinosis (JNCL; also known as CLN3 disease) is a devastating neurodegenerative lysosomal storage disorder and the most common form of Batten disease. Progressive visual and neurological symptoms lead to mortality in patients by the third decade. Although ceroid-lipofuscinosis, neuronal 3 (CLN3) has been identified as the sole disease gene, the biochemical and cellular bases of JNCL and the functions of CLN3 are yet to be fully understood. As severe ocular pathologies manifest early in disease progression, the retina is an ideal tissue to study in the efforts to unravel disease etiology and design therapeutics. There are significant discrepancies in the ocular phenotypes between human JNCL and existing murine models, impeding investigations on the sequence of events occurring during the progression of vision impairment. This review focuses on current understanding of vision loss in JNCL and discusses future research directions toward molecular dissection of the pathogenesis of the disease and associated vision problems in order to ultimately improve the quality of patient life and cure the disease. |
| Databáze: | OpenAIRE |
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