{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T03:10:16Z","timestamp":1780456216785,"version":"3.54.1"},"reference-count":39,"publisher":"BMJ","issue":"2","license":[{"start":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T00:00:00Z","timestamp":1723161600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100015539","name":"Australian Government","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015539","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Institute for Health"},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000272","name":"NIHR","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Operational Infrastructure Support Program"},{"DOI":"10.13039\/501100004752","name":"Victorian State Government","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004752","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Br J Ophthalmol"],"accepted":{"date-parts":[[2024,7,20]]},"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:sec><jats:title>Background\/aims<\/jats:title><jats:p>Female choroideremia carriers present with a spectrum of disease severity. Unlike in men, the rate of disease progression has not been well characterised in carriers. This longitudinal study aimed to determine the rate of retinal degeneration in choroideremia carriers, using multimodal imaging and microperimetry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Choroideremia carriers previously seen at Oxford Eye Hospital (United Kingdom) between 2012 and 2017 returned for testing between 2015 and 2023, providing up to 11 years\u2019 follow-up data. Participants had optical coherence tomography, fundus-tracked microperimetry and fundus autofluorescence (FAF) imaging performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty-four eyes of 17 choroideremia carriers were examined using multimodal imaging. Median age was 44 (range: 15\u201373) years at baseline and median follow-up duration was 7 (range: 1\u201311) years. At baseline, phenotype was classified as fine (n=5 eyes), coarse (n=13 eyes), geographic (n=12 eyes) or male pattern (n=4 eyes). Thirteen patients showed no change in phenotype classification, four showed slight changes associated with choroideremia-related retinal degeneration. Despite this, carriers with severe retinal phenotypes had a statistically significant decline in average retinal sensitivity (\u22120.7\u2009dB and \u22120.8\u2009dB per year, respectively, p&lt;0.001), area of geographic loss defined by FAF (+2.5\u2009mm<jats:sup>2<\/jats:sup>and +3.7\u2009mm<jats:sup>2<\/jats:sup>per year, respectively, p&lt;0.001) and thinning of the photoreceptor complex (up to \u22122.8 microns and \u221210.3 microns per year, p&lt;0.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Choroideremia carriers, particularly those with severe retinal phenotypes, exhibit progressive retinal degeneration, as evident by multimodal imaging biomarkers and functional testing. Clinicians should not rely on retinal severity classification alone to assess disease progression.<\/jats:p><\/jats:sec>","DOI":"10.1136\/bjo-2024-325578","type":"journal-article","created":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T17:21:32Z","timestamp":1723224092000},"page":"293-299","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Longitudinal assessment of female carriers of choroideremia using multimodal retinal imaging"],"prefix":"10.1136","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0618-343X","authenticated-orcid":false,"given":"Sena A","family":"Gocuk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9907-084X","authenticated-orcid":false,"given":"Lauren N","family":"Ayton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas L","family":"Edwards","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5422-040X","authenticated-orcid":false,"given":"Myra B","family":"McGuinness","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert E","family":"Maclaren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura J","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasleen K","family":"Jolly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,8,9]]},"reference":[{"key":"2025040422453786000_109.2.293.1","doi-asserted-by":"publisher","DOI":"10.1586\/14737159.4.4.478"},{"key":"2025040422453786000_109.2.293.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2023.101190"},{"key":"2025040422453786000_109.2.293.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2016.10.022"},{"key":"2025040422453786000_109.2.293.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2014.12.036"},{"key":"2025040422453786000_109.2.293.5","doi-asserted-by":"crossref","first-page":"4498","DOI":"10.1167\/iovs.15-18362","article-title":"A Qualitative and Quantitative Assessment of Fundus Autofluorescence Patterns in Patients With Choroideremia","volume":"57","author":"Jolly","year":"2016","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2025040422453786000_109.2.293.6","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.17-22486"},{"key":"2025040422453786000_109.2.293.7","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1089\/jwh.2009.1632","article-title":"Sex-gender research sensitivity and healthcare disparities","volume":"19","author":"Gochfeld","year":"2010","journal-title":"J Womens Health (Larchmt)"},{"key":"2025040422453786000_109.2.293.8","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.whi.2017.08.006","article-title":"Disparities by Sex Tracked in the 2015 National Healthcare Quality and Disparities Report: Trends across National Quality Strategy Priorities, Health Conditions, and Access Measures","volume":"28","author":"Moore","year":"2018","journal-title":"Womens Health Issues"},{"key":"2025040422453786000_109.2.293.9","doi-asserted-by":"crossref","DOI":"10.1016\/j.ophtha.2006.05.045","article-title":"Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram","volume":"113","author":"Renner","year":"2006","journal-title":"Ophthalmology"},{"key":"2025040422453786000_109.2.293.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2019.06.002"},{"key":"2025040422453786000_109.2.293.11","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2011.623261"},{"key":"2025040422453786000_109.2.293.12","doi-asserted-by":"crossref","DOI":"10.1167\/tvst.10.2.28","article-title":"Low Luminance Visual Acuity and Low Luminance Deficit in Choroideremia and RPGR-Associated Retinitis Pigmentosa","volume":"10","author":"Wood","year":"2021","journal-title":"Transl Vis Sci Technol"},{"key":"2025040422453786000_109.2.293.13","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2019-315124"},{"key":"2025040422453786000_109.2.293.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2018.06.011"},{"key":"2025040422453786000_109.2.293.15","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2020.100907"},{"key":"2025040422453786000_109.2.293.16","doi-asserted-by":"crossref","DOI":"10.1167\/tvst.10.7.12","article-title":"Microperimetry Hill of Vision and Volumetric Measures of Retinal Sensitivity","volume":"10","author":"Josan","year":"2021","journal-title":"Transl Vis Sci Technol"},{"key":"2025040422453786000_109.2.293.17","unstructured":"Chaudrhy AR , Klein J-C , Parra-Denis E . Ophthalmologic image registration based on shape-context: application to fundus autofluorescence (FAF) images. In: Visualization, imaging, and image processing (VIIP). Acta Press, 2008: 630\u201355."},{"key":"2025040422453786000_109.2.293.18","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2019"},{"key":"2025040422453786000_109.2.293.19","doi-asserted-by":"publisher","DOI":"10.1111\/aos.14281"},{"key":"2025040422453786000_109.2.293.20","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2020-317692"},{"key":"2025040422453786000_109.2.293.21","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.87.11.1381"},{"key":"2025040422453786000_109.2.293.22","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-2926"},{"key":"2025040422453786000_109.2.293.23","doi-asserted-by":"crossref","DOI":"10.1167\/tvst.12.6.4","article-title":"Microperimetry as an Outcome Measure in RPGR-associated Retinitis Pigmentosa Clinical Trials","volume":"12","author":"Taylor","year":"2023","journal-title":"Transl Vis Sci Technol"},{"key":"2025040422453786000_109.2.293.24","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1038\/s41433-020-0974-1","article-title":"Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches","volume":"35","author":"Hagag","year":"2021","journal-title":"Eye (Lond)"},{"key":"2025040422453786000_109.2.293.25","doi-asserted-by":"publisher","DOI":"10.1159\/000515148"},{"key":"2025040422453786000_109.2.293.26","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1001\/jamaophthalmol.2020.1735","article-title":"Longitudinal Microperimetric Changes of Macular Sensitivity in Stargardt Disease After 12 Months: ProgStar Report No. 13","volume":"138","author":"Sch\u00f6nbach","year":"2020","journal-title":"JAMA Ophthalmol"},{"key":"2025040422453786000_109.2.293.27","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1001\/jamaophthalmol.2014.5963","article-title":"Longitudinal changes in microperimetry and low luminance visual acuity in age-related macular degeneration","volume":"133","author":"Wu","year":"2015","journal-title":"JAMA Ophthalmol"},{"key":"2025040422453786000_109.2.293.28","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1016\/j.oret.2020.03.003","article-title":"Long-term Natural History of Atrophy in Eyes with Choroideremia-A Systematic Review and Meta-analysis of Individual-Level Data","volume":"4","author":"Shen","year":"2020","journal-title":"Ophthalmol Retina"},{"key":"2025040422453786000_109.2.293.29","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(00)00643-6"},{"key":"2025040422453786000_109.2.293.30","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2016.03.018"},{"key":"2025040422453786000_109.2.293.31","first-page":"1","article-title":"Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers","volume":"176","author":"K\u00e4rn\u00e4","year":"1986","journal-title":"Acta Ophthalmol Suppl (1985)"},{"key":"2025040422453786000_109.2.293.32","unstructured":"Valkenburg D . Disease severity in female carriers of choroideremia and a possible assication with CHM expression levels. Inh Ret Dis 2022;157."},{"key":"2025040422453786000_109.2.293.33","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1038\/190372a0","article-title":"Gene action in the X-chromosome of the mouse (Mus musculus L.)","volume":"190","author":"LYON","year":"1961","journal-title":"Nature New Biol"},{"key":"2025040422453786000_109.2.293.34","doi-asserted-by":"crossref","first-page":"100893","DOI":"10.1016\/j.preteyeres.2020.100893","article-title":"Fundus autofluorescence imaging","volume":"81","author":"Schmitz-Valckenberg","year":"2021","journal-title":"Prog Retin Eye Res"},{"key":"2025040422453786000_109.2.293.35","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.sjopt.2014.03.008","article-title":"Fundus autofluorescence imaging: Fundamentals and clinical relevance","volume":"28","author":"Sepah","year":"2014","journal-title":"Saudi J Ophthalmol"},{"key":"2025040422453786000_109.2.293.36","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1038\/eye.2017.19","article-title":"Fundus autofluorescence imaging: systematic review of test accuracy for the diagnosis and monitoring of retinal conditions","volume":"31","author":"Frampton","year":"2017","journal-title":"Eye (Lond)"},{"key":"2025040422453786000_109.2.293.37","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(02)01756-6"},{"key":"2025040422453786000_109.2.293.38","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1001\/jamaophthalmol.2013.4014","article-title":"Quantification of fundus autofluorescence to detect disease severity in nonexudative age-related macular degeneration","volume":"131","author":"Schachar","year":"2013","journal-title":"JAMA Ophthalmol"},{"key":"2025040422453786000_109.2.293.39","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2005.01.003"}],"container-title":["British Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bjo-2024-325578","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,5]],"date-time":"2025-04-05T09:32:57Z","timestamp":1743845577000},"score":1,"resource":{"primary":{"URL":"https:\/\/bjo.bmj.com\/lookup\/doi\/10.1136\/bjo-2024-325578"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,9]]},"references-count":39,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,1,28]]},"published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1136\/bjo-2024-325578"],"URL":"https:\/\/doi.org\/10.1136\/bjo-2024-325578","relation":{},"ISSN":["0007-1161","1468-2079"],"issn-type":[{"value":"0007-1161","type":"print"},{"value":"1468-2079","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,9]]}}}