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Since the early 1990s, rapid advances in molecular biology have enabled the identification of developmental genes, genes responsible for human congenital diseases, and relevant genes of mutant animals with various anomalies. In this review, we first look at the development of the eye, and we highlight seminal reports regarding archetypal gene defects underlying three developmental ocular disorders in humans: (1) holoprosencephaly (HPE), with cyclopia being exhibited in the most severe cases; (2) microphthalmia, anophthalmia, and coloboma (MAC) phenotypes; and (3) anterior segment dysgenesis (ASDG), known as Peters anomaly and its related disorders. The recently developed methods, such as next\u2010generation sequencing and genome editing techniques, have aided the discovery of gene mutations in congenital eye diseases and gene functions in normal eye development. Finally, we discuss <jats:italic>Pax6<\/jats:italic>\u2010genome edited mosaic eyes and propose that somatic mosaicism in developmental gene mutations should be considered a causal factor for variable phenotypes, sporadic cases, and de novo mutations in human developmental disorders.<\/jats:p>","DOI":"10.1111\/cga.12304","type":"journal-article","created":{"date-parts":[[2018,7,24]],"date-time":"2018-07-24T09:10:26Z","timestamp":1532423426000},"page":"56-73","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Congenital eye anomalies: More mosaic than thought?"],"prefix":"10.1111","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1961-606X","authenticated-orcid":false,"given":"Hideyo","family":"Ohuchi","sequence":"first","affiliation":[{"name":"Department of Cytology and Histology, Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Sciences  Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keita","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Cytology and Histology, Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Sciences  Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Munenori","family":"Habuta","sequence":"additional","affiliation":[{"name":"Department of Cytology and Histology, Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Sciences  Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Fujita","sequence":"additional","affiliation":[{"name":"Department of Cytology and Histology, Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Sciences  Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuya","family":"Bando","sequence":"additional","affiliation":[{"name":"Department of Cytology and Histology, Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Sciences  Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,8,21]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"984","volume-title":"Histology, a Text and Atlas with Correlated Cell and Molecular Biology","author":"Pawlina W","year":"2016"},{"key":"e_1_2_7_3_1","first-page":"61","article-title":"Uber correlation in der entwicklung des auges","volume":"15","author":"Spemann H","year":"1901","journal-title":"Verh Anat Ges"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.025494"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/IOP.0000000000000702"},{"key":"e_1_2_7_6_1","volume-title":"Langman's Medical Embryology","author":"Sadler TW","year":"2015"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01892"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1092120215"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/328131a0"},{"key":"e_1_2_7_10_1","first-page":"540","volume-title":"The Developing Human: Clinically Oriented Embryology","author":"Moore KL","year":"2013"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2011.75"},{"key":"e_1_2_7_12_1","first-page":"33","article-title":"The development of the eyelids. 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