Retinal thinning in phenylketonuria and Gaucher disease type 3

Publication type:
Journal article
Metadata:
Abstract
<jats:title>Abstract</jats:title><jats:sec> <jats:title>Purpose</jats:title> <jats:p>Retinal alterations in inherited metabolic diseases associated with neurodegeneration are poorly studied. The objective was to study retinal thickness, specifically the components of the ganglion cell complex (GCC)—nerve fiber layer (NFL), ganglion cell layer (GCL), and inner plexiform layer (IPL)—using spectral-domain optical coherence tomography (SD-OCT) in two different diseases with potential dopaminergic depletion, phenylketonuria (PKU) and Gaucher disease type 3 (GD3).</jats:p> </jats:sec><jats:sec> <jats:title>Methods</jats:title> <jats:p>Retinal layers in 19 patients with PKU, 15 patients with GD3, and 93 healthy individuals were measured using peripapillary ring scan and macular SD-OCT. Linear mixed models were computed including an adjustment for age, sex, and spherical equivalent. We calculated Spearman’s rank correlations between retinal layer measurements and clinical and/or laboratory parameters.</jats:p> </jats:sec><jats:sec> <jats:title>Results</jats:title> <jats:p>Thinning of total retinal thickness was found in the macular inner ring (<jats:italic>p</jats:italic> = 0.002), and outer ring (<jats:italic>p</jats:italic> = 0.012), sparing the fovea (<jats:italic>p</jats:italic> = 0.12) in PKU, while in GD3, all subfields were thinned (fovea <jats:italic>p</jats:italic> &lt; 0.001, inner ring <jats:italic>p</jats:italic> = 0.047, outer ring 0.07). In both conditions, thinning was most evident in the NFL, GCL, and IPL, while OPL (outer plexiform layer) was thickened. Peripapillary retinal nerve fiber layer measurements remained normal. GCL and IPL in PKU correlated with tyrosine serum concentration.</jats:p> </jats:sec><jats:sec> <jats:title>Conclusion</jats:title> <jats:p>Thinning of the NFL, GCL, and IPL, with thickened OPL, are both found in PKU and in GD3. Low dopamine concentrations in the retina might promote these effects. However, these data do not give evidence that retinal measurements can be used as a biomarker for disease severity in patients with GD3.</jats:p> </jats:sec>
Autoren
  • Susanne Hopf
  • Alexander K Schuster
  • Julia B Hennermann
  • Norbert Pfeiffer
  • Susanne Pitz
DOI
10.1007/s00417-021-05424-5
eISSN
1435-702X
ISSN
0721-832X
Ausgabe der Veröffentlichung
4
Zeitschrift
Graefe's Archive for Clinical and Experimental Ophthalmology
Sprache
en
Online publication date
2021
Paginierung
1153 - 1160
Datum der Veröffentlichung
2022
Status
Published
Herausgeber
Springer Science and Business Media LLC
Herausgeber URL
http://dx.doi.org/10.1007/s00417-021-05424-5
Datum der Datenerfassung
2022
Titel
Retinal thinning in phenylketonuria and Gaucher disease type 3
Ausgabe der Zeitschrift
260

Data source: Crossref

Other metadata sources:
Author's licence
CC-BY
Autoren
  • Susanne Hopf
  • Alexander K Schuster
  • Julia B Hennermann
  • Norbert Pfeiffer
  • Susanne Pitz
Hosting institution
Universitätsbibliothek Mainz
Sammlungen
  • JGU-Publikationen
Resource version
Published version
DOI
10.1007/s00417-021-05424-5
File(s) embargoed
false
Open access
true
ISSN
1435-702X
Zeitschrift
Graefe's archive for clinical and experimental ophthalmology
Schlüsselwörter
  • 610 Medizin
  • 610 Medical sciences
Sprache
eng
Open access status
Open Access
Paginierung
1153 - 1160
Datum der Veröffentlichung
2022
Public URL
https://openscience.ub.uni-mainz.de/handle/20.500.12030/7676
Herausgeber
Springer
Datum der Datenerfassung
2022
Datum, an dem der Datensatz öffentlich gemacht wurde
2022
Zugang
Public
Titel
Retinal thinning in phenylketonuria and Gaucher disease type 3
Ausgabe der Zeitschrift
260

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retinal_thinning_in_phenylket-20220829153537640.pdf

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