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Can a portable flash visual evoked potential (VEP) device identify chiasmal decussation anomalies in albinism?

Can a portable flash visual evoked potential (VEP) device identify chiasmal decussation anomalies in albinism?
Can a portable flash visual evoked potential (VEP) device identify chiasmal decussation anomalies in albinism?
Background: visual evoked potentials (VEPs) are used to detect chiasmal misrouting associated with albinism. However, VEPs are only performed in specialist centres and typically have long waiting lists. The portable electrophysiology device RETeval® shows promise as a clinical screening tool across a range of ophthalmic conditions. Here, we explore its utility in detecting chiasmal abnormalities associated with albinism.

Methods: flash VEPs were recorded on the RETeval® and by standard ISCEV techniques for 27 patients with suspected albinism and 40 control patients as part of routine appointments. We retrospectively investigated the agreeability between the two methods. The amplitude/latency of the main component was measured for standard VEPs whilst a correlation value of interhemispheric difference was calculated for the RETeval® data.

Results: we demonstrate a significant difference between albinism patients and controls (p < 0.001) with respect to the interhemispheric difference identified by the RETeval®. By applying a threshold of 0.001865 to the correlation value, the RETeval® detected chiasmal misrouting in all 27 patients with albinism and had 97% agreeability to standard testing.

Conclusions: this study shows the potential of using the RETeval® as a clinical tool for the diagnosis of chiasmal anomalies in albinism. The RETeval® has significant time/cost savings which could hasten diagnoses.
OCA, VEP, albinism, chiasmal misrouting, decussation defects
2075-4418
Keeling, Eloise
3207bbdb-d391-44af-8abc-a60c08dce45b
Carter, Perry
b330105f-f4ee-4cbf-88bb-d2c97b9aa126
Musa, Abdi Malik
d653ea6d-7be4-40e6-8f6d-3556ae5ee3de
Shawkat, Fatima
10bffac1-9300-43f6-832e-11c0f1feca36
Lee, Helena
5d36fd1e-9334-4db5-b201-034d147133fb
Self, Jay E.
0f6efc58-ae24-4667-b8d6-6fafa849e389
Keeling, Eloise
3207bbdb-d391-44af-8abc-a60c08dce45b
Carter, Perry
b330105f-f4ee-4cbf-88bb-d2c97b9aa126
Musa, Abdi Malik
d653ea6d-7be4-40e6-8f6d-3556ae5ee3de
Shawkat, Fatima
10bffac1-9300-43f6-832e-11c0f1feca36
Lee, Helena
5d36fd1e-9334-4db5-b201-034d147133fb
Self, Jay E.
0f6efc58-ae24-4667-b8d6-6fafa849e389

Keeling, Eloise, Carter, Perry, Musa, Abdi Malik, Shawkat, Fatima, Lee, Helena and Self, Jay E. (2025) Can a portable flash visual evoked potential (VEP) device identify chiasmal decussation anomalies in albinism? Diagnostics, 15 (11), [1395]. (doi:10.3390/diagnostics15111395).

Record type: Article

Abstract

Background: visual evoked potentials (VEPs) are used to detect chiasmal misrouting associated with albinism. However, VEPs are only performed in specialist centres and typically have long waiting lists. The portable electrophysiology device RETeval® shows promise as a clinical screening tool across a range of ophthalmic conditions. Here, we explore its utility in detecting chiasmal abnormalities associated with albinism.

Methods: flash VEPs were recorded on the RETeval® and by standard ISCEV techniques for 27 patients with suspected albinism and 40 control patients as part of routine appointments. We retrospectively investigated the agreeability between the two methods. The amplitude/latency of the main component was measured for standard VEPs whilst a correlation value of interhemispheric difference was calculated for the RETeval® data.

Results: we demonstrate a significant difference between albinism patients and controls (p < 0.001) with respect to the interhemispheric difference identified by the RETeval®. By applying a threshold of 0.001865 to the correlation value, the RETeval® detected chiasmal misrouting in all 27 patients with albinism and had 97% agreeability to standard testing.

Conclusions: this study shows the potential of using the RETeval® as a clinical tool for the diagnosis of chiasmal anomalies in albinism. The RETeval® has significant time/cost savings which could hasten diagnoses.

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More information

Accepted/In Press date: 26 May 2025
Published date: 30 May 2025
Keywords: OCA, VEP, albinism, chiasmal misrouting, decussation defects

Identifiers

Local EPrints ID: 503101
URI: http://eprints.soton.ac.uk/id/eprint/503101
ISSN: 2075-4418
PURE UUID: 39ec87b1-e1fe-48da-87b3-097a925ecb88
ORCID for Eloise Keeling: ORCID iD orcid.org/0000-0003-0399-359X
ORCID for Helena Lee: ORCID iD orcid.org/0000-0002-2573-9536
ORCID for Jay E. Self: ORCID iD orcid.org/0000-0002-1030-9963

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Date deposited: 21 Jul 2025 16:53
Last modified: 22 Aug 2025 02:27

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Contributors

Author: Eloise Keeling ORCID iD
Author: Perry Carter
Author: Abdi Malik Musa
Author: Fatima Shawkat
Author: Helena Lee ORCID iD
Author: Jay E. Self ORCID iD

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