Journal
TARGETING THE LYSOSOME
Volume 1371, Issue -, Pages 55-67Publisher
BLACKWELL SCIENCE PUBL
DOI: 10.1111/nyas.12990
Keywords
juvenile neuronal ceroid lipofuscinosis; CLN3; vision loss; ocular pathologies; retina
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Funding
- NEI NIH HHS [K08 EY021757] Funding Source: Medline
- NATIONAL EYE INSTITUTE [K08EY021757] Funding Source: NIH RePORTER
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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.
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