{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T17:44:55Z","timestamp":1787161495629,"version":"build-2736575974"},"reference-count":533,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T00:00:00Z","timestamp":1661472000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100011912","name":"Taipei Veterans General Hospital (VGHTPE)","doi-asserted-by":"publisher","award":["V111C-189"],"award-info":[{"award-number":["V111C-189"]}],"id":[{"id":"10.13039\/501100011912","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011912","name":"Taipei Veterans General Hospital (VGHTPE)","doi-asserted-by":"publisher","award":["V111C-085"],"award-info":[{"award-number":["V111C-085"]}],"id":[{"id":"10.13039\/501100011912","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011912","name":"Taipei Veterans General Hospital (VGHTPE)","doi-asserted-by":"publisher","award":["MOST 108-2314-B-010-042-MY3"],"award-info":[{"award-number":["MOST 108-2314-B-010-042-MY3"]}],"id":[{"id":"10.13039\/501100011912","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011912","name":"Taipei Veterans General Hospital (VGHTPE)","doi-asserted-by":"publisher","award":["MOST 111-2314-B-A49-057-MY3"],"award-info":[{"award-number":["MOST 111-2314-B-A49-057-MY3"]}],"id":[{"id":"10.13039\/501100011912","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006245","name":"Ministry of Science and Technology (MOST)","doi-asserted-by":"publisher","award":["V111C-189"],"award-info":[{"award-number":["V111C-189"]}],"id":[{"id":"10.13039\/501100006245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006245","name":"Ministry of Science and Technology (MOST)","doi-asserted-by":"publisher","award":["V111C-085"],"award-info":[{"award-number":["V111C-085"]}],"id":[{"id":"10.13039\/501100006245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006245","name":"Ministry of Science and Technology (MOST)","doi-asserted-by":"publisher","award":["MOST 108-2314-B-010-042-MY3"],"award-info":[{"award-number":["MOST 108-2314-B-010-042-MY3"]}],"id":[{"id":"10.13039\/501100006245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006245","name":"Ministry of Science and Technology (MOST)","doi-asserted-by":"publisher","award":["MOST 111-2314-B-A49-057-MY3"],"award-info":[{"award-number":["MOST 111-2314-B-A49-057-MY3"]}],"id":[{"id":"10.13039\/501100006245","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Cerebral visual impairments (CVIs) is an umbrella term that categorizes miscellaneous visual defects with parallel genetic brain disorders. While the manifestations of CVIs are diverse and ambiguous, molecular diagnostics stand out as a powerful approach for understanding pathomechanisms in CVIs. Nevertheless, the characterization of CVI disease cohorts has been fragmented and lacks integration. By revisiting the genome-wide and phenome-wide association studies (GWAS and PheWAS), we clustered a handful of renowned CVIs into five ontology groups, namely ciliopathies (Joubert syndrome, Bardet\u2013Biedl syndrome, Alstrom syndrome), demyelination diseases (multiple sclerosis, Alexander disease, Pelizaeus\u2013Merzbacher disease), transcriptional deregulation diseases (Mowat\u2013Wilson disease, Pitt\u2013Hopkins disease, Rett syndrome, Cockayne syndrome, X-linked alpha-thalassaemia mental retardation), compromised peroxisome disorders (Zellweger spectrum disorder, Refsum disease), and channelopathies (neuromyelitis optica spectrum disorder), and reviewed several mutation hotspots currently found to be associated with the CVIs. Moreover, we discussed the common manifestations in the brain and the eye, and collated animal study findings to discuss plausible gene editing strategies for future CVI correction.<\/jats:p>","DOI":"10.3390\/ijms23179707","type":"journal-article","created":{"date-parts":[[2022,8,29]],"date-time":"2022-08-29T01:39:19Z","timestamp":1661737159000},"page":"9707","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2238-7387","authenticated-orcid":false,"given":"Kao-Jung","family":"Chang","sequence":"first","affiliation":[{"name":"School of Medicine, National Yang Ming Chiao Tung University, Taipei 112304, Taiwan"},{"name":"Department of Medical Research, Taipei Veterans General Hospital, Taipei 11217, 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Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0783-605X","authenticated-orcid":false,"given":"Yu-Jer","family":"Hsiao","sequence":"additional","affiliation":[{"name":"School of Medicine, National Yang Ming Chiao Tung University, Taipei 112304, Taiwan"},{"name":"Department of Medical Research, Taipei Veterans General Hospital, Taipei 11217, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Chun","family":"Chi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung 80708, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4306-8710","authenticated-orcid":false,"given":"Tzu-Chen","family":"Lo","sequence":"additional","affiliation":[{"name":"School of Medicine, National Yang Ming Chiao Tung University, Taipei 112304, Taiwan"},{"name":"Department of Ophthalmology, Taipei Veterans General Hospital, Taipei 11217, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"He-Jhen","family":"Dai","sequence":"additional","affiliation":[{"name":"School of Medicine, National Yang Ming Chiao Tung University, Taipei 112304, Taiwan"},{"name":"Department of Medical Research, Taipei Veterans General Hospital, Taipei 11217, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6092-5166","authenticated-orcid":false,"given":"Yi-Chiang","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation, Taipei Veterans General Hospital, Taipei 11217, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ding-Hao","family":"Liu","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei 112304, Taiwan"},{"name":"Department of Physical Medicine and 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