Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G & gt;A mutation in ceroid lipofuscinosis neuronal 3 ( CLN3 )

ConclusionsOur case study shows that (1) non-syndromicCLN3 disease leads to rod and delayed primary cone degeneration resulting in constricting peripheral field and enlarging central scotoma and, (2) the c.175G>ACLN3 mutation, altered splicing of theCLN3 gene. Overall, we provide comprehensive clinical characterization of a patient with non-syndromicCLN3 disease. (Source: Documenta Ophthalmologica)

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