Gutenberg Open Science: Saccadic reaction time and ocular findings in phenylketonuria

Please use this identifier to cite or link to this item: http://doi.org/10.25358/openscience-5485

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DC Field	Value	Language
dc.contributor.author	Hopf, Susanne	-
dc.contributor.author	Nowak, Caroline	-
dc.contributor.author	Hennermann, Julia B.	-
dc.contributor.author	Schmidtmann, Irene	-
dc.contributor.author	Pfeiffer, Norbert	-
dc.contributor.author	Pitz, Susanne	-
dc.date.accessioned	2020-12-14T09:27:12Z	-
dc.date.available	2020-12-14T09:27:12Z	-
dc.date.issued	2020	-
dc.identifier.uri	https://openscience.ub.uni-mainz.de/handle/20.500.12030/5489	-
dc.description.abstract	Background 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. Methods 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. Results 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. Conclusions 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. Keywords: Saccadometry Video-oculography Saccades Phenylketonuria Hyperphenylalaninemia Phenylalanine hydroxylase deficiency	en_GB
dc.description.sponsorship	DFG, Open Access-Publizieren Universität Mainz / Universitätsmedizin Mainz	de
dc.language.iso	eng	de
dc.rights	CC BY	de_DE
dc.rights.uri	https://creativecommons.org/licenses/by/4.0/	*
dc.subject.ddc	610 Medizin	de_DE
dc.subject.ddc	610 Medical sciences	en_GB
dc.title	Saccadic reaction time and ocular findings in phenylketonuria	en_GB
dc.type	Zeitschriftenaufsatz	de
dc.identifier.doi	http://doi.org/10.25358/openscience-5485	-
jgu.type.contenttype	Scientific article	de
jgu.type.dinitype	article	en_GB
jgu.type.version	Published version	de
jgu.type.resource	Text	de
jgu.organisation.department	FB 04 Medizin	de
jgu.organisation.number	2700	-
jgu.organisation.name	Johannes Gutenberg-Universität Mainz	-
jgu.rights.accessrights	openAccess	-
jgu.journal.title	Orphanet journal of rare diseases	de
jgu.journal.volume	15	de
jgu.pages.alternative	124	de
jgu.publisher.year	2020	-
jgu.publisher.name	BioMed Central	de
jgu.publisher.place	London	de
jgu.publisher.uri	https://doi.org/10.1186/s13023-020-01407-7	de
jgu.publisher.issn	1750-1172	de
jgu.organisation.place	Mainz	-
jgu.subject.ddccode	610	de
jgu.publisher.doi	10.1186/s13023-020-01407-7
jgu.organisation.ror	https://ror.org/023b0x485
Appears in collections:	JGU-Publikationen

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