{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T20:07:52Z","timestamp":1789502872820,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,1,7]],"date-time":"2013-01-07T00:00:00Z","timestamp":1357516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract.<\/jats:title><jats:p><jats:bold>Purpose:\u2002<\/jats:bold> To describe the ocular and electrophysiological phenotype of four patients with late\u2010onset retinal degeneration (LORD).<\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold> Clinical examination, fundus and anterior segment photography, fundus autofluorescence imaging and spectral domain optical coherence tomography (SD\u2010OCT) were performed. Three patients underwent pattern and full\u2010field electroretinography (ERG). Patient DNA was screened for the c.686C&gt;G, p.Ser163Arg mutation in <jats:italic>C1QTNF5<\/jats:italic>.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> All affected individuals had a family history suggestive of autosomal dominant inheritance with full penetrance. Molecular analysis identified a heterozygous c.686C&gt;G, p.Ser163Arg mutation in <jats:italic>C1QTNF5<\/jats:italic> in DNA from all four affected probands. All four patients presented in their 50s with nyctalopia and developed central visual loss in their 60s. Peripupillary iris atrophy and long anterior zonular insertions were present in three of four patients. Dilated fundus examination revealed scalloped areas of retinal pigment epithelium (RPE) atrophy in the mid\u2010periphery and widespread atrophy in the posterior pole. Full\u2010field ERGs were consistent with rod\u2010cone dystrophy with pattern ERG evidence of severe macular involvement. SD\u2010OCT revealed widespread loss of the photoreceptors with absence of the inner\/outer segment junction line and concurrent thinning of the outer nuclear layer. Diffuse choroidal thinning, mainly affecting the inner choroid with loss of the choriocapillaris, was observed.<\/jats:p><jats:p><jats:bold>Conclusion:\u2002<\/jats:bold>  <jats:italic>C1QTNF5<\/jats:italic> retinopathy is an autosomal dominant LORD resulting in a complex ocular phenotype involving the RPE and ciliary epithelium. SD\u2010OCT findings revealed widespread photoreceptor loss and diffuse choroidal thinning.<\/jats:p>","DOI":"10.1111\/aos.12010","type":"journal-article","created":{"date-parts":[[2013,1,7]],"date-time":"2013-01-07T12:08:54Z","timestamp":1357560534000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Phenotypic findings in <i>C1QTNF5<\/i> retinopathy (late\u2010onset retinal degeneration)"],"prefix":"10.1111","volume":"91","author":[{"given":"Vasileios","family":"Soumplis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panagiotis I.","family":"Sergouniotis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony G.","family":"Robson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony T.","family":"Moore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham E.","family":"Holder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R.","family":"Webster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,1,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2010.71"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.05-0159"},{"key":"e_1_2_6_4_1","first-page":"284","article-title":"Late\u2010onset retinal macular degeneration: clinical insights into an inherited retinal degeneration","volume":"93","author":"Borooah S","year":"2009","journal-title":"Br J Ophthalmol"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr080"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1076\/opge.22.2.97.2231"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg289"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-007-9053-1"},{"key":"e_1_2_6_9_1","first-page":"1882","article-title":"Phenotypic marker for early disease detection in dominant late\u2010onset retinal degeneration","volume":"42","author":"Jacobson SG","year":"2001","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_2_6_10_1","first-page":"1772","article-title":"Sub\u2010retinal pigment epithelial deposits in a dominant late\u2010onset retinal degeneration","volume":"37","author":"Kuntz CA","year":"1996","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-008-9155-4"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(00)00419-X"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl091"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0027433"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2005.06.023"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0b013e318240a574"}],"container-title":["Acta Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Faos.12010","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/aos.12010","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T11:56:11Z","timestamp":1698666971000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/aos.12010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,7]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1111\/aos.12010"],"URL":"https:\/\/doi.org\/10.1111\/aos.12010","archive":["Portico"],"relation":{},"ISSN":["1755-375X","1755-3768"],"issn-type":[{"value":"1755-375X","type":"print"},{"value":"1755-3768","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,7]]},"assertion":[{"value":"2013-01-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}