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We describe clinical findings in a patient who demonstrated an unusual macular optical coherence tomography (OCT) phenotype, not previously reported in this condition.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Our patient underwent multimodal retinal imaging, international standard full-field ERG testing and whole genome sequencing.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The patient was a 60-year-old woman with non-progressive visual impairment since birth, nystagmus and preference for dim lighting. Clinical fundus examination was unremarkable. OCT imaging revealed a hypo-reflective zone under an elevated fovea in both eyes. ERGs showed an electronegative DA10 response, with severely abnormal light-adapted responses. Whole genome sequencing revealed homozygosity for a known pathogenic variant in <jats:italic>CABP4<\/jats:italic>. No variants were found in other genes that could explain the patient\u2019s phenotype.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>OCT findings of foveal elevation and an underlying hypo-reflective zone are novel in this condition. Whilst the clinical history was similar to achromatopsia and other cone dysfunction syndromes, ERG findings suggested disease associated with <jats:italic>CACNA1F<\/jats:italic> or <jats:italic>CABP4<\/jats:italic>. As <jats:italic>CACNA1F<\/jats:italic> is X-linked, <jats:italic>CABP4<\/jats:italic> was more likely, and confirmed on genetic testing. The patient saw better in dim light, confirming that night blindness is not a feature of <jats:italic>CABP4<\/jats:italic>-associated disease. Our case highlights the value of ERGs in discriminating between causes of cone dysfunction, and extends the range of retinal imaging phenotypes reported in this disorder.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s10633-023-09961-8","type":"journal-article","created":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T05:01:31Z","timestamp":1704949291000},"page":"115-120","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Unusual OCT findings in a patient with CABP4-associated cone\u2013rod synaptic disorder"],"prefix":"10.1007","volume":"148","author":[{"given":"Jit Kai","family":"Tan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gavin","family":"Arno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dragana","family":"Josifova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moin D.","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1254-0832","authenticated-orcid":false,"given":"Omar A.","family":"Mahroo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,1,11]]},"reference":[{"issue":"1:2","key":"9961_CR1","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1016\/0002-9394(54)90011-2","volume":"38","author":"LA Riggs","year":"1954","unstructured":"Riggs LA (1954) Electroretinography in cases of night blindness. 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