{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:20:30Z","timestamp":1760059230008,"version":"build-2065373602"},"reference-count":32,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T00:00:00Z","timestamp":1748563200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Gift of Sight"},{"name":"Southampton Hospital Charity"},{"name":"Lahna Appeal"},{"name":"Nystagmus Network"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>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\u00ae 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\u00ae 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\u00ae data. Results: We demonstrate a significant difference between albinism patients and controls (p &lt; 0.001) with respect to the interhemispheric difference identified by the RETeval\u00ae. By applying a threshold of 0.001865 to the correlation value, the RETeval\u00ae 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\u00ae as a clinical tool for the diagnosis of chiasmal anomalies in albinism. The RETeval\u00ae has significant time\/cost savings which could hasten diagnoses.<\/jats:p>","DOI":"10.3390\/diagnostics15111395","type":"journal-article","created":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T03:19:38Z","timestamp":1748834378000},"page":"1395","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Can a Portable Flash Visual Evoked Potential (VEP) Device Identify Chiasmal Decussation Anomalies in Albinism?"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0399-359X","authenticated-orcid":false,"given":"Eloise","family":"Keeling","sequence":"first","affiliation":[{"name":"Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK"},{"name":"Southampton Eye Unit, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9038-8333","authenticated-orcid":false,"given":"Perry","family":"Carter","sequence":"additional","affiliation":[{"name":"Southampton Eye Unit, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdi Malik","family":"Musa","sequence":"additional","affiliation":[{"name":"Southampton Eye Unit, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK"},{"name":"Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO16 6YDJ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatima","family":"Shawkat","sequence":"additional","affiliation":[{"name":"Southampton Eye Unit, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2573-9536","authenticated-orcid":false,"given":"Helena","family":"Lee","sequence":"additional","affiliation":[{"name":"Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK"},{"name":"Southampton Eye Unit, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1030-9963","authenticated-orcid":false,"given":"Jay E.","family":"Self","sequence":"additional","affiliation":[{"name":"Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK"},{"name":"Southampton Eye Unit, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/1750-1172-2-43","article-title":"Oculocutaneous albinism","volume":"2","author":"Ek","year":"2007","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1093\/inthealth\/ihv039","article-title":"Albinism in Africa: A medical and social emergency","volume":"7","author":"Brilliant","year":"2015","journal-title":"Int. Health"},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Hong, E.S., Zeeb, H., and Repacholi, M.H. (2006). Albinism in Africa as a public health issue. BMC Public Health, 6.","DOI":"10.1186\/1471-2458-6-212"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1042\/bj3550259","article-title":"The molecular basis of oculocutaneous albinism type 1 (OCA1): Sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation","volume":"355","author":"Toyofuku","year":"2001","journal-title":"Biochem. J."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1016\/j.ophtha.2011.01.028","article-title":"Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?","volume":"118","author":"Thomas","year":"2011","journal-title":"Ophthalmology"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1136\/bjo.87.6.767","article-title":"The clinical features of albinism and their correlation with visual evoked potentials","volume":"87","author":"Dorey","year":"2003","journal-title":"Br. J. Ophthalmol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1953","DOI":"10.1016\/j.ophtha.2018.08.003","article-title":"The Phenotypic Spectrum of Albinism","volume":"125","author":"Kruijt","year":"2018","journal-title":"Ophthalmology"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.ajo.2022.08.028","article-title":"Retinal Development in Infants and Young Children with Albinism: Evidence for Plasticity in Early Childhood","volume":"245","author":"Lee","year":"2023","journal-title":"Am. J. Ophthalmol."},{"key":"ref_9","first-page":"1393","article-title":"Oral human-equivalent L-DOPA\/Carbidopa dosages administered during the postnatal critical period of neuroplasticity rescues retinal morphology and visual function in a mouse model of human albinism","volume":"60","author":"Scott","year":"2019","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/j.survophthal.2020.10.007","article-title":"Current and emerging treatments for albinism","volume":"66","author":"Liu","year":"2021","journal-title":"Surv. Ophthalmol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1038\/s41525-021-00275-9","article-title":"Evidence that the Ser192Tyr\/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)","volume":"7","author":"Lin","year":"2022","journal-title":"NPJ Genom. Med."},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Norman, C.S., O\u2019Gorman, L., Gibson, J., Pengelly, R.J., Baralle, D., Ratnayaka, J.A., Griffiths, H., Rose-Zerilli, M., Ranger, M., and Bunyan, D. (2017). Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). Sci. Rep., 7.","DOI":"10.1038\/s41598-017-04401-5"},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"O\u2019Gorman, L., Norman, C.S., Michaels, L., Newall, T., Crosby, A.H., Mattocks, C., Cree, A.J., Lotery, A.J., Baple, E.L., and Ratnayaka, J.A. (2019). A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping. Sci. Rep., 9.","DOI":"10.1038\/s41598-019-49368-7"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.2147\/OPTH.S301107","article-title":"The Role of the Flash Visual Evoked Potential in Evaluating Visual Function in Patients with Indirect Traumatic Optic Neuropathy","volume":"15","author":"Mohammed","year":"2021","journal-title":"Clin. Ophthalmol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/0167-8760(89)90053-6","article-title":"Electrodiagnostics of chiasmal compressive lesions","volume":"16","author":"Brecelj","year":"1994","journal-title":"Int. J. Psychophysiol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10633-016-9553-y","article-title":"ISCEV standard for clinical visual evoked potentials: (2016 update)","volume":"133","author":"Odom","year":"2016","journal-title":"Doc. Ophthalmol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1038\/eye.1992.30","article-title":"Electrophysiological assessment of visual pathway function in infants","volume":"6","author":"Kriss","year":"1992","journal-title":"Eye"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1111\/aos.14938","article-title":"An alternative electroretinography protocol for children: A study of diagnostic agreement and accuracy relative to ISCEV standard electroretinograms","volume":"100","author":"Marmoy","year":"2022","journal-title":"Acta Ophthalmol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2354","DOI":"10.1038\/s41433-021-01680-1","article-title":"What can visual electrophysiology tell about possible visual-field defects in paediatric patients","volume":"35","author":"Handley","year":"2021","journal-title":"Eye"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"77","DOI":"10.3109\/13816819209087608","article-title":"A practical approach to albino diagnosis. VEP misrouting across the age span","volume":"13","author":"Apkarian","year":"1992","journal-title":"Ophthalmic Paediatr. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"185","DOI":"10.3109\/13816819009020978","article-title":"Childhood albinism. Visual electrophysiological features","volume":"11","author":"Kriss","year":"1990","journal-title":"Ophthalmic Paediatr. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"3963","DOI":"10.1167\/iovs.19-27364","article-title":"The Detection of Misrouting in Albinism: Evaluation of Different VEP Procedures in a Heterogeneous Cohort","volume":"60","author":"Kruijt","year":"2019","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1939","DOI":"10.1046\/j.1460-9568.2003.02929.x","article-title":"Age-related changes in the dynamics of human albino visual pathways","volume":"18","author":"Neveu","year":"2003","journal-title":"Eur. J. Neurosci."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1023\/A:1022526409674","article-title":"Chiasmal coefficient of flash and pattern visual evoked potentials for detection of chiasmal misrouting in albinism","volume":"106","author":"Pott","year":"2003","journal-title":"Doc. Ophthalmol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1067\/mpa.2000.107901","article-title":"Comparison of techniques for detecting visually evoked potential asymmetry in albinism","volume":"4","author":"Soong","year":"2000","journal-title":"J. Am. Assoc. Pediatr. Ophthalmol. Strabismus"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/s10633-021-09830-2","article-title":"Repeated measurements of ERGs and VEPs using chloral hydrate sedation and propofol anesthesia in young children","volume":"143","author":"McCulloch","year":"2021","journal-title":"Doc. Ophthalmol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s10633-022-09911-w","article-title":"VEP examination with new portable device","volume":"146","author":"Kuba","year":"2023","journal-title":"Doc. Ophthalmol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1007\/s10633-022-09903-w","article-title":"Comparing the RETeval(\u00ae) portable ERG device with more traditional tabletop ERG systems in normal subjects and selected retinopathies","volume":"146","author":"You","year":"2022","journal-title":"Doc. Ophthalmol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"2180","DOI":"10.1038\/s41433-020-01221-2","article-title":"Comparison of the handheld RETeval ERG system with a routine ERG system in healthy adults and in paediatric patients","volume":"35","author":"Carter","year":"2021","journal-title":"Eye"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1097\/00041327-200103000-00007","article-title":"A Girl Without a Chiasm: Electrophysiologic and MRI Evidence for the Absence of Crossing Optic Nerve Fibers in a Girl with a Congenital Nystagmus","volume":"21","author":"Jansonius","year":"2001","journal-title":"J. Neuro-Ophthalmol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1038\/nrn1009","article-title":"Mapping brain asymmetry","volume":"4","author":"Toga","year":"2003","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1097\/JTO.0b013e3181ec173d","article-title":"Receiver Operating Characteristic Curve in Diagnostic Test Assessment","volume":"5","author":"Mandrekar","year":"2010","journal-title":"J. Thorac. Oncol."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/11\/1395\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:44:29Z","timestamp":1760031869000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/11\/1395"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,30]]},"references-count":32,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,6]]}},"alternative-id":["diagnostics15111395"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics15111395","relation":{},"ISSN":["2075-4418"],"issn-type":[{"type":"electronic","value":"2075-4418"}],"subject":[],"published":{"date-parts":[[2025,5,30]]}}}