Related Experiment Video
Updated: Jan 16, 2026
Author Spotlight: Establishing a Practical and Cost-Effective Protocol for Corneal Sensitivity Testing in Clinical Settings
Published on: August 2, 2024
Evaluation of corneal and anterior segment parameters in pediatric phenylketonuria
Sevim Ayça Seyyar1, Gizem Gürbostan Soysal2, Duhan Hopurcuoğlu3
1Gaziantep University Hospital Ophthalmology Department, Gaziantep, Turkey.
Insights
Children with phenylketonuria (PKU) show distinct anterior segment parameters, including corneal curvature and hexagonal cell percentage, compared to healthy peers. These findings highlight potential ocular differences in pediatric PKU patients.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Phenylketonuria (PKU) is a rare genetic disorder affecting amino acid metabolism.
- Ocular manifestations in PKU are not fully understood, necessitating further investigation.
- Anterior segment parameters may be influenced by metabolic disorders like PKU.
Purpose of the Study:
- To compare anterior segment parameters in children with PKU versus age-matched healthy controls.
- To identify specific ocular differences associated with pediatric PKU.
- To contribute to a better understanding of PKU's impact on eye health.
Main Methods:
- Retrospective observational study analyzing data from 25 PKU patients and 60 controls.
- Comprehensive ophthalmic evaluations including refraction, BCVA, slit-lamp biomicroscopy, IOP, specular microscopy, and corneal topography.
- Statistical comparison of anterior segment parameters between study and control groups.
Main Results:
- Significant differences observed in the percentage of hexagonal cells (HEX): 65.53±8.17% in PKU group vs. 69.75±4.19% in controls (p=0.021).
- Flatter keratometry (K1) in the PKU group (41.70±1.54 D) compared to controls (43.16±1.52 D) (p=0.002).
- Steeper keratometry (K2) was also lower in the PKU group (42.55±1.83 D) versus controls (43.91±1.73 D) (p=0.013).
Conclusions:
- Pediatric PKU patients exhibit altered anterior segment parameters, specifically in keratometric values and HEX percentage.
- These findings suggest a link between PKU and specific corneal and cellular characteristics.
- Further research is warranted to explore the clinical implications of these ocular differences in PKU.
Purpose:
To compare anterior segment parameters in healthy children of the same age with those in children with phenylketonuria (PKU).
Study Design:
Retrospective observational study METHODS: Data from 25 eyes of PKU patients (study group) and 60 eyes of age- and gender-matched children (control group) were analyzed. The records reviewed included results from a comprehensive ophthalmic evaluation that each participant had previously undergone. This evaluation included refraction evaluation (spherical equivalent), best corrected visual acuity (BCVA) testing, slit-lamp biomicroscopy, fundus examination, intraocular pressure (IOP) measurement, specular microscopy, and corneal topography measurement.
Result:
Forty-five (52.9%) age- and sex-matched participants were girls and 40 (47.1%) were boys. The percentage of hexagonal cells (HEX) was 65.53±8.17 in the study group and 69.75±4.19 in the control group (p=0.021). Flat keratometry (K1) was 41.70±1.54 D in the study group and 43.16±1.52 D in the control group (p=0.002). Steep keratometry (K2) was 42.55±1.83 D in the study group and 43.91±1.73 D in the control group (p=0.013).
Conclusion:
This study shows that patients with pediatric PKU have differences in the anterior segment parameters, including keratometric values and HEX, when compared with healthy controls.
Related Concept Videos
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism
01:20Inborn Errors of Metabolism