Related Experiment Video
Updated: Aug 25, 2026
Electroretinogram Recording for Infants and Children under Anesthesia to Achieve Optimal Dark Adaptation and International Standards
Published on: September 3, 2020
[Congenital achromatopsia: electroretinogram in early diagnosis]
S Defoort-Dhellemmes1, T Lebrun, C F Arndt
1Service d'Explorations Fonctionnelles de la Vision, Hôpital R. Salengro, CHRU, 59037 Lille.
Insights
Simplified electroretinogram (ERG) tests reliably diagnose achromatopsia, a hereditary low-vision condition, in children. While effective for diagnosis, the ERG may not distinguish between complete and incomplete achromatopsia.
Area of Science:
- Ophthalmology
- Genetics
- Clinical Diagnosis
Context:
- Achromatopsia is a rare hereditary retinal disorder causing congenital low vision, nystagmus, photophobia, and reduced visual acuity.
- Early diagnosis in infants is crucial but challenging due to the limitations of standard visual assessments.
Purpose:
- To evaluate the reliability of simplified electroretinogram (ERG) procedures for diagnosing achromatopsia in children.
- To assess the utility of ERG in conjunction with color vision tests for confirming achromatopsia.
Summary:
- A retrospective study included 30 children with nystagmus or low vision, undergoing ophthalmological examination, ERG, and color vision tests.
- Results showed normal scotopic ERG components but non-recordable photopic components, confirming achromatopsia.
- Simplified ERG methods proved reliable for diagnosing achromatopsia in pediatric patients.
Impact:
- This study validates simplified ERG protocols as a dependable diagnostic tool for achromatopsia in children.
- The findings highlight the need for further refinement to differentiate between complete and incomplete forms of achromatopsia using ERG.
Purpose:
Achromatopsia is a hereditary disease responsible for congenital low vision. Patients present with nystagmus, abnormal visual behavior or photophobia. Only the electroretinogram (ERG) can confirm the diagnosis in infants.
Patients And Methods:
Thirty children referred for nystagmus or low vision were included in this retrospective study. A complete ophthalmological examination, an ERG and when possible a color vision test (Ishihara, Farnsworth 15 Hue test) was done. A Ganzfeld ERG was performed in accordance with ISCEV standards in patients more than 6 years of age. In younger patients, a simplified method using electroluminescent diode stimulation was used and a comparative ERG in accordance with ISCEV standards was performed when the patients were old enough.
Results:
The ERG response was identical in children and adults. It confirmed the diagnosis of achromatopsia: the scotopic components obtained in dark adapted conditions were normal, (scotopic a-wave, b2 wave). The photopic components, recorded in light-adapted conditions, in order to inhibit the scotopic response (photopic wave, b1 wave), were not recordable. The color vision tests confirmed color blindness; however, in some patients color denomination was correct.
Conclusion:
The simplified ERG procedures performed in our series were reliable in detecting achromatopsia. However, it may not be sufficient to discriminate complete from incomplete achromatopsia.
