Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)
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DOI: 10.1136/bjo-2022-321260
Abstract: Background/aims Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative, blinding lysosomal storage disorder. The purpose of the current study was to characterise the progression of CLN2-associated retinal degeneration in patients under intraventricular enzyme… read more here.
Keywords: ceroid lipofuscinosis; degeneration; retinal degeneration; late infantile ... See more keywords