{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:31:01Z","timestamp":1787502661811,"version":"build-2736575974"},"reference-count":22,"publisher":"BMJ","issue":"6","license":[{"start":{"date-parts":[[2024,3,8]],"date-time":"2024-03-08T00:00:00Z","timestamp":1709856000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MC_UU_00030\/3"],"award-info":[{"award-number":["MC_UU_00030\/3"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2024,2,19]]},"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Cerebral visual impairment (CVI) is the most common form of paediatric visual impairment in developed countries. CVI can arise from a host of genetic or acquired causes, but there has been limited research to date on CVI in the context of genetic disorders.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We carried out a retrospective analysis of genotypic and phenotypic data for participants with CVI within the DECIPHER database and 100\u2009000 Genomes Project (100KGP).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>158 individuals with CVI were identified across both cohorts. Within this group, pathogenic or likely pathogenic sequence variants in 173 genes were identified. 25 of these genes already have known associations with CVI, while the remaining 148 are candidate genes for this phenotype. Gene ontology analysis of the CVI gene sets from both DECIPHER and 100KGP suggests that CVI has a similar degree of genetic heterogeneity to other neurodevelopmental phenotypes, and a strong association with genetic variants converging on ion channels and receptor functions. Individuals with a monogenic disorder and CVI have a higher frequency of epilepsies and severe neurodisability than individuals with a monogenic disorder but not CVI.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study supports the availability of genetic testing for individuals with CVI alongside other neurodevelopmental difficulties. It also supports the availability of ophthalmological screening for individuals with genetic diagnoses linked to CVI. Further studies could elaborate on the links between specific genetic disorders, visual maturation and broader neurodevelopmental characteristics.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg-2023-109670","type":"journal-article","created":{"date-parts":[[2024,3,8]],"date-time":"2024-03-08T13:20:34Z","timestamp":1709904034000},"page":"605-612","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":10,"title":["Cerebral visual impairment: genetic diagnoses and phenotypic associations"],"prefix":"10.1136","volume":"61","author":[{"given":"Emogene","family":"Shaw","sequence":"first","affiliation":[{"name":"MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK"},{"name":"Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, UK"},{"name":"Department of Medical Genetics, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Flitcroft","sequence":"additional","affiliation":[{"name":"Children's University Hospital, Temple Street, Dublin, Ireland"},{"name":"Trinity College, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Bowman","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK"},{"name":"UCL Great Ormond Street Institute of Child Health, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2986-0584","authenticated-orcid":false,"given":"Kate","family":"Baker","sequence":"additional","affiliation":[{"name":"MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK"},{"name":"Department of Medical Genetics, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,3,8]]},"reference":[{"key":"2025101712085702000_61.6.605.1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738070220030801"},{"key":"2025101712085702000_61.6.605.2","doi-asserted-by":"publisher","DOI":"10.3109\/09273972.2012.680232"},{"key":"2025101712085702000_61.6.605.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2019.05.003"},{"key":"2025101712085702000_61.6.605.4","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14819"},{"key":"2025101712085702000_61.6.605.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2019.05.004"},{"key":"2025101712085702000_61.6.605.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.neubiorev.2020.04.008"},{"key":"2025101712085702000_61.6.605.7","doi-asserted-by":"crossref","DOI":"10.3389\/fpsyg.2016.01471","article-title":"Impact of cerebral visual impairments on motor skills: implications for developmental coordination disorders","volume":"7","author":"Chokron","year":"2016","journal-title":"Front Psychol"},{"key":"2025101712085702000_61.6.605.8","doi-asserted-by":"crossref","DOI":"10.1111\/dmcn.14837","article-title":"Cerebral visual impairment-related vision problems in the classroom","volume":"63","author":"Dale","year":"2021","journal-title":"Dev Med Child Neurol"},{"key":"2025101712085702000_61.6.605.9","doi-asserted-by":"crossref","DOI":"10.3389\/fnhum.2021.689683","article-title":"Bridging the gap: parent and child perspectives of living with cerebral visual impairments","volume":"15","author":"Goodenough","year":"2021","journal-title":"Front Hum Neurosci"},{"key":"2025101712085702000_61.6.605.10","doi-asserted-by":"publisher","DOI":"10.4103\/ijo.IJO_1274_17"},{"key":"2025101712085702000_61.6.605.11","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0000000000000610"},{"key":"2025101712085702000_61.6.605.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2014.05.002"},{"key":"2025101712085702000_61.6.605.13","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.186"},{"key":"2025101712085702000_61.6.605.14","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2415-14-59","article-title":"Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes","volume":"14","author":"Bosch","year":"2014","journal-title":"BMC Ophthalmol"},{"key":"2025101712085702000_61.6.605.15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"2025101712085702000_61.6.605.16","unstructured":"Caulfield MDJ , Dennys M , Elbahy L , et al . 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