Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.

<h4>Introduction</h4>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 (...

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Autores principales:	Susanne Hopf, Julia B Hennermann, Alexander K Schuster, Norbert Pfeiffer, Susanne Pitz
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/ccfdc3d1610743aaab94dc3c53490199
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spelling	oai:doaj.org-article:ccfdc3d1610743aaab94dc3c534901992021-12-02T20:07:13ZVertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.1932-620310.1371/journal.pone.0252825https://doaj.org/article/ccfdc3d1610743aaab94dc3c534901992021-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0252825https://doaj.org/toc/1932-6203<h4>Introduction</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Conclusions</h4>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.Susanne HopfJulia B HennermannAlexander K SchusterNorbert PfeifferSusanne PitzPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 16, Iss 6, p e0252825 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Susanne Hopf Julia B Hennermann Alexander K Schuster Norbert Pfeiffer Susanne Pitz Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.
description	<h4>Introduction</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Conclusions</h4>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.
format	article
author	Susanne Hopf Julia B Hennermann Alexander K Schuster Norbert Pfeiffer Susanne Pitz
author_facet	Susanne Hopf Julia B Hennermann Alexander K Schuster Norbert Pfeiffer Susanne Pitz
author_sort	Susanne Hopf
title	Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.
title_short	Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.
title_full	Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.
title_fullStr	Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.
title_full_unstemmed	Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.
title_sort	vertical saccadic palsy and foveal retinal thinning in niemann-pick disease type c.
publisher	Public Library of Science (PLoS)
publishDate	2021
url	https://doaj.org/article/ccfdc3d1610743aaab94dc3c53490199
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Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.

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