Saccadic reaction time and ocular findings in phenylketonuria
- Publikationstyp:
- Zeitschriftenaufsatz
- Metadaten:
-
- Abstract
- <jats:title>Abstract</jats:title><jats:sec> <jats:title>Background</jats:title> <jats:p>Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocular changes, the disorder has been poorly recognized by ophthalmologists. Neurophysiologic tests imply prolonged reaction time correlating with increased phenylalanine blood concentrations. We aimed to test saccadic reaction time in PKU patients in dependency of blood phenylalanine concentrations.</jats:p> </jats:sec><jats:sec> <jats:title>Methods</jats:title> <jats:p>Nineteen biochemically diagnosed PKU patients and 100 controls completed comprehensive ophthalmologic and orthoptic examinations including saccadometry by infrared based video-oculography. Peak velocity, gain, and particularly latency of reflexive saccades were compared to controls, and regression analysis was performed.</jats:p> </jats:sec><jats:sec> <jats:title>Results</jats:title> <jats:p>Latency of reflexive saccades was not associated with the current phenylalanine concentration. Although in 10 out of 19 patients phenylalanine concentrations were outside the age-related therapeutic range, latency differed little between PKU patients and the controls, as well as peak velocity and gain. Ocular findings occurred as partial hypopigmentation of the iris in one late diagnosed patient aged 36 years, and as bilateral cataracts (possibly due to steroid intake) with refractive amblyopia, strabismus, high myopia, and glaucoma in another late diagnosed patient aged 46 years. Visual acuity was reduced in eight PKU patients.</jats:p> </jats:sec><jats:sec> <jats:title>Conclusions</jats:title> <jats:p>Saccadometry, particularly saccadic reaction time, is not useful in the monitoring of phenylketonuria. Ophthalmic examination is recommended in PKU patients, as the occurrence of ocular pathologies was relatively high.</jats:p> </jats:sec>
- Autoren
- Susanne Hopf
- Caroline Nowak
- Julia B Hennermann
- Irene Schmidtmann
- Norbert Pfeiffer
- Susanne Pitz
- DOI
- 10.1186/s13023-020-01407-7
- eISSN
- 1750-1172
- Ausgabe der Veröffentlichung
- 1
- Zeitschrift
- Orphanet Journal of Rare Diseases
- Sprache
- en
- Artikelnummer
- 124
- Online publication date
- 2020
- Datum der Veröffentlichung
- 2020
- Status
- Published
- Herausgeber
- Springer Science and Business Media LLC
- Herausgeber URL
- http://dx.doi.org/10.1186/s13023-020-01407-7
- Datum der Datenerfassung
- 2021
- Titel
- Saccadic reaction time and ocular findings in phenylketonuria
- Ausgabe der Zeitschrift
- 15
Datenquelle: Crossref
- Andere Metadatenquellen:
-
- Author's licence
- CC-BY
- Autoren
- Susanne Hopf
- Caroline Nowak
- Julia B Hennermann
- Irene Schmidtmann
- Norbert Pfeiffer
- Susanne Pitz
- Hosting institution
- Universitätsbibliothek Mainz
- Sammlungen
- JGU-Publikationen
- Resource version
- Published version
- DOI
- 10.1186/s13023-020-01407-7
- Funding acknowledgements
- DFG, Open Access-Publizieren Universität Mainz / Universitätsmedizin Mainz
- File(s) embargoed
- false
- Open access
- true
- ISSN
- 1750-1172
- Zeitschrift
- Orphanet journal of rare diseases
- Schlüsselwörter
- 610 Medizin
- 610 Medical sciences
- Sprache
- eng
- Open access status
- Open Access
- Paginierung
- 124
- Datum der Veröffentlichung
- 2020
- Public URL
- https://openscience.ub.uni-mainz.de/handle/20.500.12030/5489
- Herausgeber
- BioMed Central
- Herausgeber URL
- https://doi.org/10.1186/s13023-020-01407-7
- Datum der Datenerfassung
- 2020
- Datum, an dem der Datensatz öffentlich gemacht wurde
- 2020
- Zugang
- Public
- Titel
- Saccadic reaction time and ocular findings in phenylketonuria
- Ausgabe der Zeitschrift
- 15
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Datenquelle: OPENSCIENCE.UB