Gutenberg Open Science: Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C

Please use this identifier to cite or link to this item: http://doi.org/10.25358/openscience-6464

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DC Field	Value	Language
dc.contributor.author	Hopf, Susanne	-
dc.contributor.author	Hennermann, Julia B.	-
dc.contributor.author	Schuster, Alexander K.	-
dc.contributor.author	Pfeiffer, Norbert	-
dc.contributor.author	Pitz, Susanne	-
dc.date.accessioned	2021-11-09T09:01:36Z	-
dc.date.available	2021-11-09T09:01:36Z	-
dc.date.issued	2021	-
dc.identifier.uri	https://openscience.ub.uni-mainz.de/handle/20.500.12030/6474	-
dc.description.abstract	INTRODUCTION Niemann-Pick type C (NPC) is a lysosomal storage disease that is progressive and life-limiting, with an estimated incidence of 1:120,000 live births. In addition to systemic manifestation with (hepato-)splenomegaly, there are a number of neurological manifestations (ataxia, dysarthria, dementia, cataplexy, epileptic seizures, and psychiatric disorders). Characteristic is vertical supranuclear gaze palsy, which is often overlooked. Early diagnosis and start of therapy improve quality of life. This study aimed to characterize oculomotor dysfunction of NPC patients, and to provide ophthalmologic data including retinal imaging. METHODS Eighteen patients with biochemically or genetically diagnosed NPC completed oculomotor and ophthalmologic examination. Ten of them performed saccadometry by infrared based video-oculography. Saccadic parameters were compared to 100 healthy controls, and were correlated with clinical variables. Another subgroup of eight patients received optical coherence tomography (OCT) of the optic disc and the macula, of which the segmented layers were analysed using a crude linear mixed model, and one adjusted for age, sex, and spherical equivalent. RESULTS Saccadometry revealed slowed peak velocity compared to controls most evident vertically. Peak velocity correlated negatively with SARA-Score, but correlation with clinical assessment of saccades was not significant. Clinical features in the assessment of vertical saccades were intensive blinking and head movements to initiate gaze changes, and lateral trajectory of the eyes. Macular OCT revealed significant total retinal thinning in the fovea, specifically of the outer nuclear layer and outer retinal layer. Para- and perifoveal retinal thicknesses, as well as peripapillary retinal nerve fibre layer were normal. CONCLUSIONS Foveal thinning was revealed in NPC. It remains to be shown, whether OCT will prove to be useful to monitor progression. Saccadic impairment reflects CNS involvement and therefore is a parameter to demonstrate the progression of NPC, and potentially also the efficacy of new therapies. Saccadometry, in contrast to clinical investigation, allows the precise evaluation of saccades.	en_GB
dc.description.sponsorship	Open Access-Publizieren Universität Mainz / Universitätsmedizin Mainz	de
dc.language.iso	eng	de
dc.rights	CC BY	*
dc.rights.uri	https://creativecommons.org/licenses/by/4.0/	*
dc.subject.ddc	610 Medizin	de_DE
dc.subject.ddc	610 Medical sciences	en_GB
dc.title	Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C	en_GB
dc.type	Zeitschriftenaufsatz	de
dc.identifier.doi	http://doi.org/10.25358/openscience-6464	-
jgu.type.contenttype	Scientific article	de
jgu.type.dinitype	article	en_GB
jgu.type.version	Published version	de
jgu.type.resource	Text	de
jgu.organisation.department	FB 04 Medizin	de
jgu.organisation.number	2700	-
jgu.organisation.name	Johannes Gutenberg-Universität Mainz	-
jgu.rights.accessrights	openAccess	-
jgu.journal.title	PLOS ONE	de
jgu.journal.volume	16	de
jgu.journal.issue	6	de
jgu.pages.alternative	e0252825	de
jgu.publisher.year	2021	-
jgu.publisher.name	PLOS	de
jgu.publisher.place	San Francisco, California, US	de
jgu.publisher.uri	https://doi.org/10.1371/journal.pone.0252825	de
jgu.publisher.issn	1932-6203	de
jgu.organisation.place	Mainz	-
jgu.subject.ddccode	610	de
jgu.publisher.doi	10.1371/journal.pone.0252825
jgu.organisation.ror	https://ror.org/023b0x485
Appears in collections:	JGU-Publikationen

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