Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3)
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DOI: 10.1007/s10633-018-9665-7
Abstract: PurposeMutation of the CLN3 gene, associated with juvenile neuronal ceroid lipofuscinosis, has recently been associated with late-onset, non-syndromic retinal dystrophy. Herein we describe the multimodal imaging, immunological and systemic features of an adult with compound… read more here.
Keywords: non syndromic; syndromic retinal; cln3; retinal dystrophy ... See more keywords