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

Publication type:
Journal article
Metadata:
Abstract
<jats:sec id="sec001"> <jats:title>Introduction</jats:title> <jats:p>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.</jats:p> </jats:sec> <jats:sec id="sec002"> <jats:title>Methods</jats:title> <jats:p>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.</jats:p> </jats:sec> <jats:sec id="sec003"> <jats:title>Results</jats:title> <jats:p>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.</jats:p> </jats:sec> <jats:sec id="sec004"> <jats:title>Conclusions</jats:title> <jats:p>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.</jats:p> </jats:sec>
Autoren
  • Susanne Hopf
  • Julia B Hennermann
  • Alexander K Schuster
  • Norbert Pfeiffer
  • Susanne Pitz
DOI
10.1371/journal.pone.0252825
Editoren
  • Ahmed Awadein
eISSN
1932-6203
Ausgabe der Veröffentlichung
6
Zeitschrift
PLOS ONE
Sprache
en
Online publication date
2021
Paginierung
e0252825 - e0252825
Status
Published online
Herausgeber
Public Library of Science (PLoS)
Herausgeber URL
http://dx.doi.org/10.1371/journal.pone.0252825
Datum der Datenerfassung
2021
Titel
Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C
Ausgabe der Zeitschrift
16

Data source: Crossref

Other metadata sources:
Author's licence
CC-BY
Autoren
  • Susanne Hopf
  • Julia B Hennermann
  • Alexander K Schuster
  • Norbert Pfeiffer
  • Susanne Pitz
Hosting institution
Universitätsbibliothek Mainz
Sammlungen
  • JGU-Publikationen
Resource version
Published version
DOI
10.1371/journal.pone.0252825
Funding acknowledgements
  • Open Access-Publizieren Universität Mainz / Universitätsmedizin Mainz
File(s) embargoed
false
Open access
true
ISSN
1932-6203
Ausgabe der Veröffentlichung
6
Zeitschrift
PLOS ONE
Schlüsselwörter
  • 610 Medizin
  • 610 Medical sciences
Sprache
eng
Open access status
Open Access
Paginierung
e0252825
Datum der Veröffentlichung
2021
Public URL
https://openscience.ub.uni-mainz.de/handle/20.500.12030/6474
Herausgeber
PLOS
Herausgeber URL
https://doi.org/10.1371/journal.pone.0252825
Datum der Datenerfassung
2021
Datum, an dem der Datensatz öffentlich gemacht wurde
2021
Zugang
Public
Titel
Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C
Ausgabe der Zeitschrift
16

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hopf_susanne-vertical_sacca-20211105153625889.pdf

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