Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)

Madhu M. Ouseph, Mark E. Kleinman, Qing Jun Wang

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


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.

Original languageEnglish
Pages (from-to)55-67
Number of pages13
JournalAnnals of the New York Academy of Sciences
Issue number1
StatePublished - May 1 2016

Bibliographical note

Publisher Copyright:
© 2016 New York Academy of Sciences.


  • CLN3
  • juvenile neuronal ceroid lipofuscinosis
  • ocular pathologies
  • retina
  • vision loss

ASJC Scopus subject areas

  • Neuroscience (all)
  • Biochemistry, Genetics and Molecular Biology (all)
  • History and Philosophy of Science


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