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Kirby Foundation","doi-asserted-by":"publisher","award":["no grant number"],"award-info":[{"award-number":["no grant number"]}],"id":[{"id":"10.13039\/100001205","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008556","name":"Paul MacKall and Evanina Bell MacKall Trust","doi-asserted-by":"publisher","award":["no grant number"],"award-info":[{"award-number":["no grant number"]}],"id":[{"id":"10.13039\/100008556","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","award":["no grant number"],"award-info":[{"award-number":["no grant number"]}],"id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Choroideremia (CHM) is an X-linked retinal degeneration leading to loss of the photoreceptors, retinal pigment epithelium\u00a0(RPE), and choroid. Adaptive optics optoretinography is an emerging technique for noninvasive, objective assessment of photoreceptor function. Here, we investigate parafoveal cone function in CHM using adaptive optics optoretinography and compare with cone structure and clinical assessments of vision. Parafoveal cone mosaics of 10\u00a0CHM and four normal-sighted participants were imaged with an adaptive optics scanning light ophthalmoscope. While acquiring video sequences, a 2\u00a0s 550\u039410\u00a0nm, 450\u00a0nW\/deg<jats:sup>2<\/jats:sup> stimulus was presented. Videos were registered and the intensity of each cone in each frame was extracted, normalized, standardized, and aggregated to generate the population optoretinogram (ORG) over time. A gamma-pdf was fit to the ORG and the peak was extracted as ORG amplitude. CHM ORG amplitudes were compared to normal and were correlated with bound cone density, ellipsoid zone to RPE\/Bruch\u2019s membrane (EZ-to-RPE\/BrM) distance, and foveal sensitivity using Pearson correlation analysis. ORG amplitude was significantly reduced in CHM compared to normal (0.22\u2009\u00b1\u20090.15 vs. 1.34\u2009\u00b1\u20090.31). In addition, CHM ORG amplitude was positively correlated with cone density, EZ-to-RPE\/BrM distance, and foveal sensitivity. Our results demonstrate promise for using ORG as a biomarker of photoreceptor function.<\/jats:p>","DOI":"10.1038\/s41598-024-58059-x","type":"journal-article","created":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T17:01:47Z","timestamp":1712682107000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Parafoveal cone function in choroideremia assessed with adaptive optics optoretinography"],"prefix":"10.1038","volume":"14","author":[{"given":"Peiluo","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert F.","family":"Cooper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu You","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica I. W.","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,4,9]]},"reference":[{"key":"58059_CR1","doi-asserted-by":"publisher","first-page":"1107","DOI":"10.1001\/archopht.125.8.1107","volume":"125","author":"M Mura","year":"2007","unstructured":"Mura, M., Sereda, C., Jablonski, M. M., MacDonald, I. M. & Iannaccone, A. Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. Arch. Ophthalmol. 125, 1107\u20131113. https:\/\/doi.org\/10.1001\/archopht.125.8.1107 (2007).","journal-title":"Arch. Ophthalmol."},{"key":"58059_CR2","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1080\/13816810490514333","volume":"25","author":"M Preising","year":"2004","unstructured":"Preising, M. & Ayuso, C. Rab escort protein 1 (REP1) in intracellular traffic: A functional and pathophysiological overview. 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