Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

Background/aimsLate-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 replacement t...

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Veröffentlicht in:British journal of ophthalmology 2023-10, Vol.107 (10), p.1478-1483
Hauptverfasser: Dulz, Simon, Schwering, C, Wildner, Jan, Spartalis, Christoph, Schuettauf, Frank, Bartsch, Udo, Wibbeler, Eva, Nickel, Miriam, Spitzer, Martin Stephan, Atiskova, Yevgeniya, Schulz, Angela
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Sprache:eng
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Zusammenfassung:Background/aimsLate-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 replacement therapy (ERT) with cerliponase alfa.MethodsWe analysed visual function, retinal morphology and neuropaediatric data using preferential looking test (PLT), Weill Cornell Batten Scale (WCBS), optical coherence tomography (OCT) imaging and the Hamburg Motor-Language late-infantile neuronal ceroid lipofuscinosis (LINCL) Scale (M-L scale).ResultsFifty-six eyes of 28 patients had baseline PLT, WCBS and OCT. 15 patients underwent serial examinations, resulting in a total of 132 OCT scans and WCBS results, 66 Hamburg M-L scores and 49 PLT results during a mean follow-up time of 18.2 months (range 5–40). A negative correlation (r=–0.69, p
ISSN:0007-1161
1468-2079
DOI:10.1136/bjo-2022-321260