Saccadic reaction time and ocular findings in phenylketonuria
| Autor: | Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer, Susanne Pitz |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Video-oculography
congenital hereditary and neonatal diseases and abnormalities genetic structures Hyperphenylalaninemia Eye findings Optical coherence tomography Phenylalanine Research Saccadometry lcsh:R Phenylalanine hydroxylase deficiency 610 Medizin lcsh:Medicine nutritional and metabolic diseases Phenylalanine Hydroxylase eye diseases Aminoacid metabolism Phenylketonurias 610 Medical sciences Reaction Time Saccades Humans Phenylketonuria |
| Zdroj: | Orphanet Journal of Rare Diseases Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020) |
| DOI: | 10.25358/openscience-5485 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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