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Mutations can occur at any point in embryonic development and the timing determines the extent of distribution of the mutation throughout the body and different tissue types. The eye and visual pathway offer a unique opportunity to study somatic and gonosomal mosaic mutations as the eye consists of tissues derived from all three germ layers allowing disease pathology to be assessed with noninvasive imaging. In this review, we describe systemic and ocular manifestations in a child with mosaic Coffin\u2010Siris syndrome. The patient presented with a significant medical history of accommodative esotropia and hyperopia, macrocephaly, polydactyly, global developmental delay, hypotonia, ureteropelvic junction (UPJ) obstruction, and brain MRI abnormalities. The ophthalmic findings in this patient were nonspecific, however, they are consistent with ocular manifestations reported in other patients with Coffin\u2010Siris syndrome. We also review ophthalmic findings of select mosaic chromosomal and single\u2010gene disorders. Ophthalmic assessment alongside clinical genetic testing may play an important role in diagnosis of genetic syndromes as well as understanding disease pathology, particularly when mosaicism plays a role.<\/jats:p>","DOI":"10.1002\/ajmg.c.31839","type":"journal-article","created":{"date-parts":[[2020,9,5]],"date-time":"2020-09-05T11:32:26Z","timestamp":1599305546000},"page":"644-655","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Systemic and ocular manifestations of a patient with mosaic <scp><i>ARID1A<\/i>\u2010<\/scp>a<scp>ssociated Coffin\u2010Siris<\/scp> syndrome and review of select mosaic conditions with ophthalmic manifestations"],"prefix":"10.1002","volume":"184","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9671-3483","authenticated-orcid":false,"given":"Virginia","family":"Miraldi Utz","sequence":"first","affiliation":[{"name":"Abrahamson Pediatric Eye Institute Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Ophthalmology University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana S.","family":"Brightman","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica A.","family":"Sandoval","sequence":"additional","affiliation":[{"name":"Abrahamson Pediatric Eye Institute Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3015-3545","authenticated-orcid":false,"given":"Robert B.","family":"Hufnagel","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard M.","family":"Saal","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"College of Medicine University of Cincinnati  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2012.762933"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/854784"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2011-300729"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.6"},{"issue":"6","key":"e_1_2_7_6_1","doi-asserted-by":"crossref","first-page":"310","DOI":"10.3928\/0191-3913-19901101-09","article-title":"The ocular pathology of trisomy 22: Report of two cases and review","volume":"27","author":"Antle C. 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