ArticleDocumenta ophthalmologica. Advances in ophthalmology2021
Correlation between electroretinography, foveal anatomy and visual acuity in aniridia due to PAX6 mutations.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- The relationship between foveal anatomy and retinal function in oculocutaneous albinism.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Applicability of Electroretinography Measurements in Congenital PAX6-Related Aniridia.Investigative ophthalmology & visual science · 2025Article
- Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.Ophthalmology and therapy · 2025Review
- Full-field electroretinogram recorded with skin electrodes in 6- to 12-year-old children.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Rod and Cone Dark Adaptation in Congenital Aniridia and Its Association With Retinal Structure.Investigative ophthalmology & visual science · 2023Article
- Clinical and molecular aspects of congenital aniridia - A review of current concepts.Indian journal of ophthalmology · 2022Review
- New horizons in aniridia management: Clinical insights and therapeutic advances.Taiwan journal of ophthalmologyReview
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundAniridia patients have poor visual acuity and iris malformation. The fovea in these patients is underdeveloped, but the relationship between structure and electrophysiologic function remains incompletely understood. This study correlates electrophysiology, visual acuity and optical coherence tomography (OCT) in patients with aniridia secondary to mutations in the PAX6 gene and compares with age-similar controls.
methodsPatients were recruited from clinical practice. The mfERG protocol was a 4-min 103-hexagon protocol covering approximately 40° in diameter of central retina. Diagnosys full-field ERG (ffERG) and VERIS multifocal ERG (mfERG) were obtained using standard International Society for Clinical Electrophysiology of Vision protocols. OCT central thickness was recorded, and an OCT foveal score was calculated. Nonparametric permutation testing was utilized to determine the statistical significance.
resultsA total of 6 aniridia patients and 25 control patients were recruited. On mfERG, aniridia patients had significantly lower amplitudes in rings 1-3 (p = 0.0006, 0.0013, 0.0132), shorter latencies in ring 1 (p = 0.0312) and longer latencies in rings 5 and 6 (p = 0.0026, p = 0.0042) than controls. There was a significantly positive relationship in aniridia patients between logMAR visual acuity and mfERG amplitude in ring 4 (p = 0.0392) and ring 5 (p = 0.0489). On ffERG, there was no difference in amplitudes, though photopic 3.0 a- and b-wave latency, 30 Hz flicker latency and scotopic 0.01 b-wave latency were significantly longer in aniridia patients versus control (p = 0.0018, 0.0.0005, 1.00 x [Formula: see text], 0.0198). Thicker central macula on OCT correlated with lower mfERG amplitudes in rings 4-6 (p = 0.0369, 0.0292, 0.0255). There was no correlation between visual acuity and central macular thickness or foveal hypoplasia score as determined by OCT.
conclusionsHigher amplitude on mfERG correlated with poorer visual acuity in rings 4 and 5 in patients with PAX6 mutations. The slope of the change in amplitude from central to peripheral rings on the mfERG is significantly different in aniridia patients compared to controls, with a slower drop-off of amplitude from center to periphery. Additionally, mfERG in aniridia showed lower amplitudes than controls in rings 1-3. These changes along with the lack of correlation between visual acuity and central macular thickness/OCT score suggest that changes in electrical topography may be important to visual deficits in patients with PAX6 gene mutations.
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