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
Kuper WFE, van Alfen C, van Eck L, et al. A Case of Unexpected Adult-Onset Neurologic Decline in CLN3-Associated Retinal Degeneration. JAMA Ophthalmol. 2017;135(12):1451–1453. doi:10.1001/jamaophthalmol.2017.4353
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