{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T20:07:51Z","timestamp":1789502871921,"version":"build-2803163510"},"reference-count":25,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,9]]},"DOI":"10.1097\/iae.0b013e318240a574","type":"journal-article","created":{"date-parts":[[2012,1,26]],"date-time":"2012-01-26T05:46:56Z","timestamp":1327556816000},"page":"1643-1651","source":"Crossref","is-referenced-by-count":35,"title":["THE CHARACTERIZATION OF RETINAL PHENOTYPE IN A FAMILY WITH C1QTNF5-RELATED LATE-ONSET RETINAL DEGENERATION"],"prefix":"10.1097","volume":"32","author":[{"given":"Ajoy","family":"Vincent","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis L.","family":"Munier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia C.","family":"Vandenhoven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Wright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol A.","family":"Westall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"H\u00e9on","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-27-20210130","doi-asserted-by":"crossref","first-page":"2657","DOI":"10.1093\/hmg\/ddg289","article-title":". Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.","volume":"12","author":"Hayward","year":"2003","journal-title":"Hum Mol Genet"},{"key":"R2-27-20210130","first-page":"1772","article-title":". Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration.","volume":"37","author":"Kuntz","year":"1996","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R3-27-20210130","first-page":"1882","article-title":"Phenotypic marker for early disease detection in dominant late-onset retinal degeneration.","volume":"42","author":"Jacobson","year":"2001","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R4-27-20210130","doi-asserted-by":"crossref","first-page":"3363","DOI":"10.1167\/iovs.05-0159","article-title":". Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.","volume":"46","author":"Ayyagari","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R5-27-20210130","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1001\/archopht.118.1.85","article-title":". Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 gene.","volume":"118","author":"Ayyagari","year":"2000","journal-title":"Arch Ophthalmol"},{"key":"R6-27-20210130","doi-asserted-by":"crossref","first-page":"1528","DOI":"10.1038\/eye.2010.71","article-title":"Treatment of a choroidal neovascular membrane in a patient with late-onset retinal degeneration (L-ORD) with intravitreal ranibizumab.","volume":"24","author":"Aye","year":"2010","journal-title":"Eye (Lond)"},{"key":"R7-27-20210130","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1016\/j.ajo.2005.06.023","article-title":". Long anterior lens zonules in late-onset retinal degeneration (L-ORD).","volume":"140","author":"Subrayan","year":"2005","journal-title":"Am J Ophthalmol"},{"key":"R8-27-20210130","doi-asserted-by":"crossref","first-page":"5505","DOI":"10.1167\/iovs.06-0312","article-title":". CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion.","volume":"47","author":"Mandal","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R9-27-20210130","doi-asserted-by":"crossref","first-page":"1680","DOI":"10.1093\/hmg\/ddl091","article-title":". Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.","volume":"15","author":"Shu","year":"2006","journal-title":"Hum Mol Genet"},{"key":"R10-27-20210130","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/0002-9394(77)90727-9","article-title":"Vitelliform lesions developing in normal fundi.","volume":"83","author":"Barricks","year":"1977","journal-title":"Am J Ophthalmol"},{"key":"R11-27-20210130","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.ajhg.2007.08.004","article-title":". Biallelic mutation of BEST1 causes a distinct retinopathy in humans.","volume":"82","author":"Burgess","year":"2008","journal-title":"Am J Hum Genet"},{"key":"R12-27-20210130","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1001\/archopht.1992.01080230063021","article-title":"Electro-oculography in autosomal dominant vitreoretinochoroidopathy.","volume":"110","author":"Han","year":"1992","journal-title":"Arch Ophthalmol"},{"key":"R13-27-20210130","first-page":"247","article-title":"Newer electrodiagnostic techniques in ophthalmology.","volume":"87","author":"Arden","year":"1967","journal-title":"Trans Ophthalmol Soc U K"},{"key":"R14-27-20210130","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1136\/bjo.2004.042416","article-title":". Acute zonal occult outer retinopathy: towards a set of diagnostic criteria.","volume":"89","author":"Francis","year":"2005","journal-title":"Br J Ophthalmol"},{"key":"R15-27-20210130","doi-asserted-by":"crossref","first-page":"1883","DOI":"10.1016\/j.ophtha.2008.04.041","article-title":"Drusen ultrastructure imaging with spectral domain optical coherence tomography in age-related macular degeneration.","volume":"115","author":"Khanifar","year":"2008","journal-title":"Ophthalmology"},{"key":"R16-27-20210130","doi-asserted-by":"crossref","first-page":"2256","DOI":"10.1016\/S0161-6420(00)00419-X","article-title":". Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration.","volume":"107","author":"Milam","year":"2000","journal-title":"Ophthalmology"},{"key":"R17-27-20210130","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1016\/S0161-6420(93)31466-1","article-title":"Age-related macular degeneration histopathologic studies. The 1992 Lorenz E. Zimmerman Lecture.","volume":"100","author":"Green","year":"1993","journal-title":"Ophthalmology"},{"key":"R18-27-20210130","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s10633-008-9155-4","article-title":". ISCEV Standard for full-field clinical electroretinography (2008 update).","volume":"118","author":"Marmor","year":"2009","journal-title":"Doc Ophthalmol"},{"key":"R19-27-20210130","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10633-011-9259-0","article-title":". ISCEV standard for clinical electro-oculography (2010 update).","volume":"122","author":"Marmor","year":"2011","journal-title":"Doc Ophthalmol"},{"key":"R20-27-20210130","first-page":"284","article-title":"Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration.","volume":"93","author":"Borooah","year":"2009","journal-title":"Br J Ophthalmol"},{"key":"R21-27-20210130","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/S0161-6420(98)93172-4","article-title":"Anterior shift of zonular insertion onto the anterior surface of human crystalline lens with age.","volume":"105","author":"Sakabe","year":"1998","journal-title":"Ophthalmology"},{"key":"R22-27-20210130","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1136\/bjo.82.11.1329","article-title":". Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsbys fundus dystrophy or retinitis pigmentosa.","volume":"82","author":"Fariss","year":"1998","journal-title":"Br J Ophthalmol"},{"key":"R23-27-20210130","first-page":"1218","article-title":". Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy.","volume":"15","author":"Saihan","year":"2009","journal-title":"Mol Vis"},{"key":"R24-27-20210130","doi-asserted-by":"crossref","first-page":"2000","DOI":"10.1093\/hmg\/ddr080","article-title":". A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration.","volume":"20","author":"Chavali","year":"2011","journal-title":"Hum Mol Genet"},{"key":"R25-27-20210130","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/BF02143075","article-title":". Extensive subretinal pigment epithelial deposit in two brothers suffering from dominant retinitis pigmentosa. A histopathological study.","volume":"224","author":"Duvall","year":"1986","journal-title":"Graefes Arch Clin Exp Ophthalmol"}],"container-title":["Retina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00006982-201209000-00027","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T20:29:09Z","timestamp":1786048149000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00006982-201209000-00027"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9]]},"references-count":25,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2012]]}},"URL":"https:\/\/doi.org\/10.1097\/iae.0b013e318240a574","relation":{},"ISSN":["0275-004X"],"issn-type":[{"value":"0275-004X","type":"print"}],"subject":[],"published":{"date-parts":[[2012,9]]}}}