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In this study, we describe a case with optic atrophy and a brain aneurysm, in which a <jats:italic>de novo<\/jats:italic> CNV 3q29 deletion was identified.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 40-year-old female patient was referred to our department after undergoing aneurysm transcatheter arterial embolization for a brain aneurysm. She had no history of systemic diseases, except for unsatisfactory best-corrected visual acuity (BCVA) since elementary school. Electrophysiological tests confirmed the findings in retinal images, indicating optic nerve atrophy. Chromosomal microarray analysis revealed a <jats:italic>de novo<\/jats:italic> deletion spanning 960\u00a0kb on chromosome 3q29, encompassing <jats:italic>OPA1<\/jats:italic> and six neighboring genes. Unlike previously reported deletions in this region associated with optic atrophy, neuropsychiatric disorders, and obesity, this patient displayed a unique combination of optic atrophy and a brain aneurysm. However, there is no causal relationship between the brain aneurysm and the CNV.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>In conclusion, the optic atrophy is conclusively attributed to the OPA1 deletion, and the aneurysm could be a coincidental association. The report emphasizes the likelihood of underestimating <jats:italic>OPA1<\/jats:italic> deletions due to sequencing technology limitations. Recognizing these constraints, healthcare professionals must acknowledge these limitations and consistently search for <jats:italic>OPA1<\/jats:italic> variants\/deletions in Autosomal Dominant Optic Atrophy (ADOA) patients with negative sequencing results. This strategic approach ensures a more comprehensive exploration of copy-number variations, ultimately enhancing diagnostic precision in the field of genetic disorders.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-024-01850-6","type":"journal-article","created":{"date-parts":[[2024,4,19]],"date-time":"2024-04-19T13:02:03Z","timestamp":1713531723000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29"],"prefix":"10.1186","volume":"17","author":[{"given":"Ethan Hung-Hsi","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Hsuan","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Liang","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6814-6530","authenticated-orcid":false,"given":"Eugene Yu-Chuan","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3171-3172","authenticated-orcid":false,"given":"Laura","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lung-Kun","family":"Yeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kuan-Jen","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng-Chang","family":"Hsiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6277-9879","authenticated-orcid":false,"given":"Nan-Kai","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,4,19]]},"reference":[{"key":"1850_CR1","doi-asserted-by":"publisher","first-page":"100935","DOI":"10.1016\/j.preteyeres.2020.100935","volume":"83","author":"G Lenaers","year":"2021","unstructured":"Lenaers G, Neutzner A, Le Dantec Y, Juschke C, Xiao T, Decembrini S, et al. 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