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Herein, we report a case of the 8\u2010year\u2010old female patient who showed developmental delay associated with dysplasia in the macular and large toe area. Comprehensive genomic analysis showed no possible candidate variants, but the subsequent genomic copy number analysis revealed a novel exonic deletion in the coding region of AT\u2010rich interactive domain\u2010containing protein 1B (<jats:italic>ARID1B<\/jats:italic>), a gene responsible for CSS. Genomic copy number analysis can aid in diagnosing CSS by confirming undiagnosed exonic deletions in <jats:italic>ARID1B<\/jats:italic>. Furthermore, this is the first report of CSS associated with bilateral macular dysplasia.<\/jats:p>","DOI":"10.1111\/cga.12383","type":"journal-article","created":{"date-parts":[[2020,7,3]],"date-time":"2020-07-03T04:11:40Z","timestamp":1593749500000},"page":"189-193","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp>Coffin\u2010Siris<\/scp> syndrome with bilateral macular dysplasia caused by a novel exonic deletion in <scp><i>ARID1B<\/i><\/scp>"],"prefix":"10.1111","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2340-1926","authenticated-orcid":false,"given":"Takako","family":"Fujita","sequence":"first","affiliation":[{"name":"Department of Pediatrics, School of Medicine Fukuoka University  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukiko","family":"Ihara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine Fukuoka 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