{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T19:27:08Z","timestamp":1793906828766,"version":"4.8.0"},"reference-count":34,"publisher":"BMJ","funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["099173\/Z\/12\/Z"],"award-info":[{"award-number":["099173\/Z\/12\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012617","name":"Moorfields Eye Hospital NHS Foundation Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012617","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Foundation Fighting Blindness Clinical Research Institute"},{"name":"UCL Institute of Ophthalmology"},{"name":"the National Center for Advancing Translational Sciences, National Institutes of Health","award":["UL1TR000055"],"award-info":[{"award-number":["UL1TR000055"]}]},{"name":"Biomedical Research Centre"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Br J Ophthalmol"],"abstract":"<jats:sec><jats:title>Background\/aims<\/jats:title><jats:p>The purpose of this study was to investigate retinal structure in detail of subjects with autosomal-dominant (AD) and autosomal-recessive (AR)<jats:italic>PROM1<\/jats:italic>-associated retinal degeneration (<jats:italic>PROM1<\/jats:italic>-RD), study design: institutional, cross-sectional study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Four eyes from four subjects (three with AD and one with AR)<jats:italic>PROM1<\/jats:italic>-RD were investigated by ophthalmic examination including best-corrected visual acuity (BCVA) and multimodal retinal imaging: fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT) and adaptive optics scanning light ophthalmoscopy. Quantitative assessment of atrophic lesions determined by FAF, thickness of individual retinal layers and cone photoreceptor quantification was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>BCVA ranged from 20\/16 to 20\/200. Initial pathological changes included the presence of hyperautofluorescent spots on FAF imaging, while later stages demonstrated discrete areas of atrophy. In all patients, thinning of the outer retinal layers on SD-OCT with varying degrees of atrophy could be detected depending on disease-causing variants and age. Cone density was quantified both in central and\/or at different eccentricities from the fovea. Longitudinal assessments were possible in two patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>PROM1<\/jats:italic>-RD comprises a wide range of clinical phenotypes. Depending on the stage of disease, the cone mosaic in<jats:italic>PROM1<\/jats:italic>-RD is relatively preserved and can potentially be targeted by cone-directed interventions.<\/jats:p><\/jats:sec>","DOI":"10.1136\/bjo-2022-322036","type":"journal-article","created":{"date-parts":[[2023,4,20]],"date-time":"2023-04-20T17:22:57Z","timestamp":1682011377000},"page":"bjo-2022-322036","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Deep phenotyping of PROM1-associated retinal degeneration"],"prefix":"10.1136","author":[{"given":"Gernot","family":"Schlie\u00dfleder","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8345-0557","authenticated-orcid":false,"given":"Angelos","family":"Kalitzeos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Kasilian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Navjit","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziyuan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8307-0298","authenticated-orcid":false,"given":"Zhihong","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Gro\u00dfp\u00f6tzl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8058-9753","authenticated-orcid":false,"given":"SriniVas","family":"Sadda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Wedrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1552-7046","authenticated-orcid":false,"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2982-6370","authenticated-orcid":false,"given":"Rupert W","family":"Strauss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,4,20]]},"reference":[{"key":"2023042010200653000_bjo-2022-322036v1.1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0854.2001.020202.x"},{"key":"2023042010200653000_bjo-2022-322036v1.2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI35891"},{"key":"2023042010200653000_bjo-2022-322036v1.3","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1159\/000491791","article-title":"The progression of the Stargardt disease type 4 (progstar-4) study: design and baseline characteristics (progstar-4 report No. 1)","volume":"60","author":"Strauss","year":"2018","journal-title":"Ophthalmic Res"},{"key":"2023042010200653000_bjo-2022-322036v1.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2006.03.022"},{"key":"2023042010200653000_bjo-2022-322036v1.5","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.16-21162"},{"key":"2023042010200653000_bjo-2022-322036v1.6","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.147"},{"key":"2023042010200653000_bjo-2022-322036v1.7","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.09-4561"},{"key":"2023042010200653000_bjo-2022-322036v1.8","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1167\/iovs.19-26993","article-title":"Characteristic ocular features in cases of autosomal recessive PROM1 cone-rod dystrophy","volume":"60","author":"Collison","year":"2019","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2023042010200653000_bjo-2022-322036v1.9","doi-asserted-by":"crossref","unstructured":"Cehajic-Kapetanovic J , Birtel J , McClements ME , et al . 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