Retinal thinning in phenylketonuria and Gaucher disease type 3

dc.contributor.authorHopf, Susanne
dc.contributor.authorSchuster, Alexander K.
dc.contributor.authorHennermann, Julia B.
dc.contributor.authorPfeiffer, Norbert
dc.contributor.authorPitz, Susanne
dc.date.accessioned2022-09-01T10:32:13Z
dc.date.available2022-09-01T10:32:13Z
dc.date.issued2022
dc.description.abstractPurpose 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). Methods 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. Results Thinning of total retinal thickness was found in the macular inner ring (p = 0.002), and outer ring (p = 0.012), sparing the fovea (p = 0.12) in PKU, while in GD3, all subfields were thinned (fovea p < 0.001, inner ring p = 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. Conclusion 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.de_DE
dc.identifier.doihttp://doi.org/10.25358/openscience-7662
dc.identifier.urihttps://openscience.ub.uni-mainz.de/handle/20.500.12030/7676
dc.language.isoengde
dc.rightsCC-BY-4.0*
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/*
dc.subject.ddc610 Medizinde_DE
dc.subject.ddc610 Medical sciencesen_GB
dc.titleRetinal thinning in phenylketonuria and Gaucher disease type 3en_GB
dc.typeZeitschriftenaufsatzde
jgu.journal.titleGraefe's archive for clinical and experimental ophthalmologyde
jgu.journal.volume260de
jgu.organisation.departmentFB 04 Medizinde
jgu.organisation.nameJohannes Gutenberg-Universität Mainz
jgu.organisation.number2700
jgu.organisation.placeMainz
jgu.organisation.rorhttps://ror.org/023b0x485
jgu.pages.end1160de
jgu.pages.start1153de
jgu.publisher.doi10.1007/s00417-021-05424-5de
jgu.publisher.issn1435-702Xde
jgu.publisher.nameSpringerde
jgu.publisher.placeBerlin u.a.de
jgu.publisher.year2022
jgu.rights.accessrightsopenAccess
jgu.subject.ddccode610de
jgu.type.dinitypeArticleen_GB
jgu.type.resourceTextde
jgu.type.versionPublished versionde

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