{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T15:17:00Z","timestamp":1770995820029,"version":"3.50.1"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,13]]},"DOI":"10.7759\/cureus.103528","type":"journal-article","created":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T14:19:13Z","timestamp":1770992353000},"source":"Crossref","is-referenced-by-count":0,"title":["Clinical Validation of a CRX Variant Leading to a Cone-Rod Dystrophy"],"prefix":"10.7759","author":[{"given":"Camila","family":"Pag\u00e1n-Melvin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalio","family":"Izquierdo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karla C","family":"Alejandro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2024.1461","article-title":"Nationwide prevalence of inherited retinal diseases in the Israeli population","volume":"142","author":"Shalom S","year":"2024","unstructured":"Shalom S, Ben-Yosef T, Sher I, et al.. Nationwide prevalence of inherited retinal diseases in the Israeli population. JAMA Ophthalmol. 2024, 142:609-16. 10.1001\/jamaophthalmol.2024.1461","journal-title":"JAMA Ophthalmol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-7","article-title":"Cone rod dystrophies","volume":"2","author":"Hamel CP","year":"2007","unstructured":"Hamel CP. Cone rod dystrophies. Orphanet J Rare Dis. 2007, 2:7. 10.1186\/1750-1172-2-7","journal-title":"Orphanet J Rare Dis"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.oret.2024.08.003","article-title":"Clinical, genetic, and histopathological characteristics of CRX-associated retinal dystrophies","volume":"9","author":"Hahn LC","year":"2025","unstructured":"Hahn LC, van der Veen I, Georgiou M, et al.. Clinical, genetic, and histopathological characteristics of CRX-associated retinal dystrophies. Ophthalmol Retina. 2025, 9:78-88. 10.1016\/j.oret.2024.08.003","journal-title":"Ophthalmol Retina"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/s0896-6273(00)80394-3","article-title":"Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes","volume":"19","author":"Chen S","year":"1997","unstructured":"Chen S, Wang QL, Nie Z, et al.. Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron. 1997, 19:1017-30. 10.1016\/s0896-6273(00)80394-3","journal-title":"Neuron"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3390\/genes14051057","article-title":"Genotypic profile and clinical characteristics of CRX-associated retinopathy in Koreans","volume":"14","author":"Kim DG","year":"2023","unstructured":"Kim DG, Joo K, Han J, et al.. Genotypic profile and clinical characteristics of CRX-associated retinopathy in Koreans. Genes (Basel). 2023, 14:1057. 10.3390\/genes14051057","journal-title":"Genes (Basel)"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-14715","article-title":"The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype","volume":"55","author":"Hull S","year":"2014","unstructured":"Hull S, Arno G, Plagnol V, et al.. The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. Invest Ophthalmol Vis Sci. 2014, 55:6934-44. 10.1167\/iovs.14-14715","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2018-313278","article-title":"Progressive cone and cone-rod dystrophies: Clinical features, molecular genetics and prospects for therapy","volume":"103","author":"Gill JS","year":"2019","unstructured":"Gill JS, Georgiou M, Kalitzeos A, Moore AT, Michaelides M. Progressive cone and cone-rod dystrophies: Clinical features, molecular genetics and prospects for therapy. Br J Ophthalmol. 2019, 103:711-20. 10.1136\/bjophthalmol-2018-313278","journal-title":"Br J Ophthalmol"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-65737-z","article-title":"Clinical and genetic characteristics of 18 patients from 13 Japanese families with CRX-associated retinal disorder: Identification of genotype-phenotype association","volume":"10","author":"Fujinami-Yokokawa Y","year":"2020","unstructured":"Fujinami-Yokokawa Y, Fujinami K, Kuniyoshi K, et al.. Clinical and genetic characteristics of 18 patients from 13 Japanese families with CRX-associated retinal disorder: Identification of genotype-phenotype association. Sci Rep. 2020, 10:9531. 10.1038\/s41598-020-65737-z","journal-title":"Sci Rep"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0b013e31829234e6","article-title":"Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients","volume":"33","author":"Lima LH","year":"2013","unstructured":"Lima LH, Sallum JM, Spaide RF. Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients. Retina. 2013, 33:1877-80. 10.1097\/IAE.0b013e31829234e6","journal-title":"Retina"},{"key":"ref10","article-title":"Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene","volume":"39","author":"Jacobson SG","year":"1998","unstructured":"Jacobson SG, Cideciyan AV, Huang Y, et al.. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Invest Ophthalmol Vis Sci. 1998, 39:2417-26.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2011.10.011","article-title":"Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy","volume":"119","author":"Thiadens AA","year":"2012","unstructured":"Thiadens AA, Phan TM, Zekveld-Vroon RC, et al.. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012, 119:819-26. 10.1016\/j.ophtha.2011.10.011","journal-title":"Ophthalmology"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/s0161-6420(02)01187-9","article-title":"Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation","volume":"109","author":"Lines MA","year":"2002","unstructured":"Lines MA, H\u00e9bert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. Ophthalmology. 2002, 109:1862-70. 10.1016\/s0161-6420(02)01187-9","journal-title":"Ophthalmology"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.13-12676","article-title":"Early detection of central visual function decline in cone-rod dystrophy by the use of macular focal cone electroretinogram","volume":"54","author":"Galli-Resta L","year":"2013","unstructured":"Galli-Resta L, Piccardi M, Ziccardi L, et al.. Early detection of central visual function decline in cone-rod dystrophy by the use of macular focal cone electroretinogram. Invest Ophthalmol Vis Sci. 2013, 54:6560-9. 10.1167\/iovs.13-12676","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2019.107846","article-title":"Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis","volume":"189","author":"Yi Z","year":"2019","unstructured":"Yi Z, Xiao X, Li S, Sun W, Zhang Q. Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis. Exp Eye Res. 2019, 189:107846. 10.1016\/j.exer.2019.107846","journal-title":"Exp Eye Res"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards S","year":"2015","unstructured":"Richards S, Aziz N, Bale S, et al.. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015, 17:405-24. 10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"ref16","unstructured":"ClinVar Variation ID 99596. NM_000554.6(CRX).c.166G&gt;A (p.Ala56Thr). (2026). Accessed: February 1, 2026: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/99596\/."},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/cphg.93","article-title":"Overview of specifications to the ACMG\/AMP variant interpretation guidelines","volume":"103","author":"Harrison SM","year":"2019","unstructured":"Harrison SM, Biesecker LG, Rehm HL. Overview of specifications to the ACMG\/AMP variant interpretation guidelines. Curr Protoc Hum Genet. 2019, 103:e93. 10.1002\/cphg.93","journal-title":"Curr Protoc Hum Genet"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/460798-clinical-validation-of-a-crx-variant-leading-to-a-cone-rod-dystrophy","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T14:19:14Z","timestamp":1770992354000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/460798-clinical-validation-of-a-crx-variant-leading-to-a-cone-rod-dystrophy"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,13]]},"references-count":17,"URL":"https:\/\/doi.org\/10.7759\/cureus.103528","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2026,2,13]]}}}