Related Experiment Videos
ERG and VEP follow-up study in children with Leber's congenital amaurosis
1Institute of Clinical Neurophysiology, University Medical Centre, Ljubljana, Slovenia. jelka.brecelj@uikn.mf.uni-lj.si
Insights
This study followed children with suspected Leber congenital amaurosis (LCA), finding that electroretinography (ERG) and visual evoked potentials (VEP) helped diagnose and track visual dysfunction over time.
Area of Science:
- Ophthalmology
- Neuroscience
- Pediatrics
Background:
- Leber congenital amaurosis (LCA) is a rare inherited eye disease causing severe visual impairment from birth.
- Early diagnosis and monitoring are crucial for managing LCA and its associated visual dysfunction in children.
Purpose of the Study:
- To prospectively evaluate the clinical and electrophysiological course of visual dysfunction in children suspected of LCA.
- To assess the utility of simultaneous electroretinography (ERG) and visual evoked potentials (VEP) for diagnosis and follow-up in pediatric LCA cases.
Main Methods:
- Simultaneous recording of flash electroretinography (ERG) and visual evoked potentials (VEP) using white flash stimulation.
- Study included 9 children suspected of LCA, with at least two recordings per child over a mean follow-up duration of 26.2 months.
- Initial recordings were performed in children aged 3-17 months (mean 7.6 months).
Main Results:
- Flash ERG was unrecordable in 8 out of 9 children initially.
- Flash VEP abnormalities (undetectable, delayed, attenuated) were observed in 8 children at the first examination.
- By the final examination (mean age 33.8 months), flash VEP was recordable in all children, and flash ERG in one; no deterioration of flash VEP was noted in 8 children.
Conclusions:
- Simultaneous ERG and VEP recordings in alert children with suspected LCA are valuable for diagnostic and follow-up purposes.
- Electrophysiological assessments provide insights into the nature and progression of visual dysfunction in pediatric LCA.
- VEP showed stability in most cases, suggesting its utility in monitoring disease course in LCA patients.
Purpose:
Our prospective clinical and electrophysiological study of children suspected of Leber's congenital amaurosis (LCA) was aimed to follow-up the course of their visual dysfunction.
Methods:
Electroretinography (ERG) and visual evoked potentials (VEP) to white flash stimulation were simultaneously recorded in 9 children at least twice.
Results:
The first flash ERG and flash VEP recordings were performed when children were 3-17 months old (mean age 7.6 months). Flash ERG was not recordable in 8 children; flash VEP to binocular stimulation could not be detected in 3, was delayed in 2, attenuated in 2, both attenuated and delayed in 1, and without evident abnormality in 1 of the 9 children. On the last examination (mean age 33.8 months) flash VEP activity was recordable in all children, while flash ERG was recordable in 1. Electrophysiological follow-up (mean duration 26.2 months) showed no deterioration of flash VEP in 8 children.
Conclusion:
In children of LCA simultaneous recording of flash ERG and flash VEP in alert children was helpful to indicate the nature of the visual problem for diagnostic and follow-up purposes.