Article
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
JAMA ophthalmology - 1 Jul 2017
Ku Cristy A, Hull Sarah, Arno Gavin, Vincent Ajoy, Carss Keren, Kayton Robert, Weeks Douglas, Anderson Glenn W, Geraets Ryan, Parker Camille, Pearce David A, Michaelides Michel, MacLaren Robert E, Robson Anthony G, Holder Graham E, Heon Elise, Raymond F Lucy, Moore Anthony T, Webster Andrew R, Pennesi Mark E
Abstract excerpt
Importance: Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients...
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