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Observation
December 2017

A Case of Unexpected Adult-Onset Neurologic Decline in CLN3-Associated Retinal Degeneration

Author Affiliations
  • 1Department of Metabolic Diseases, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, the Netherlands
  • 2Bartiméus Institute for the Visually Impaired, Zeist and Doorn, the Netherlands
  • 3Sylvia Toth Center for Multidisciplinary Follow-up of Lysosomal Storage Disorders, University Medical Center Utrecht, Utrecht, the Netherlands
  • 4Department of Clinical Chemistry, University Medical Center Utrecht, Utrecht, the Netherlands
JAMA Ophthalmol. 2017;135(12):1451-1453. doi:10.1001/jamaophthalmol.2017.4353

Mutations in CLN3 (OMIM #204200) lead to retinal degeneration in childhood, with additional development of cerebral neurodegeneration around the same age (classic CLN3) or up to adulthood (protracted CLN3).1 However, recent research claims that a subset of mutations in CLN3, notably the R405W missense mutation, give rise to isolated retinal degeneration.2,3

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