{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T12:29:50Z","timestamp":1764937790606,"version":"3.41.2"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,8,29]],"date-time":"2024-08-29T00:00:00Z","timestamp":1724889600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Multiple pigmented epithelial cysts at the edge of pupils, that is, iris flocculi, in both eyes, are rare ocular diseases. It has been demonstrated that this disease can be attributed to mutations in the smooth muscle \u03b1-actin 2 (<jats:italic>ACTA2<\/jats:italic>) gene, which mainly affects the function of smooth muscle cells (SMCs). SMCs are components of the iris, aorta, and several other systemic organs. In addition, iris flocculi are strongly correlated with familial thoracic aortic aneurysm and dissection (TAAD), which is caused by the mutation of amino acid 149 in the <jats:italic>ACTA2<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case description<\/jats:title><jats:p>A 6-month-old Chinese boy was found to have iris flocculi during ocular fundus screening for premature infants. His mother, a 30-year-old Chinese woman with a history of aortic dissection, underwent an ophthalmic examination and was found to have iris flocculi. Whole exome sequencing revealed a heterozygous c.445C\u2009&amp;gt;\u2009T (p. Arg149Cys) mutation in <jats:italic>ACTA2<\/jats:italic> in both the boy and his mother. After his family history was traced, the boy\u2019s grandfather was diagnosed with similar iris flocculi. Due to the absence of any ocular complications caused by iris flocculi in the cases, no special treatment was given, and regular follow-up was recommended.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We reported one case of familial iris flocculi caused by a heterozygous missense mutation in <jats:italic>ACTA2<\/jats:italic> (p. Arg149Cys) and presented multimodal optical images of both the iris and fundus in three consecutive generations. This case report enriched the clinical features of retinal vasculature and macula associated with the mutation in the amino acid 149 of the <jats:italic>ACTA2<\/jats:italic> gene.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fmed.2024.1369884","type":"journal-article","created":{"date-parts":[[2024,8,29]],"date-time":"2024-08-29T04:33:57Z","timestamp":1724906037000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Multimodal optical imaging of iris flocculi in three consecutive generations: a case report"],"prefix":"10.3389","volume":"11","author":[{"given":"Anna","family":"Jiang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Licong","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaiqin","family":"She","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,8,29]]},"reference":[{"key":"ref1","first-page":"771","article-title":"Primary cysts of the iris","volume":"79","author":"Shields","year":"1981","journal-title":"Trans Am Ophthalmol Soc"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"64","DOI":"10.22608\/APO.201613","article-title":"Cysts of the Iris pigment epithelium. What is new and interesting? The 2016 Jose Rizal international medal lecture","volume":"6","author":"Shields","year":"2017","journal-title":"Asia Pac J Ophthalmol"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"1409","DOI":"10.1136\/bjo.2009.158998","article-title":"Ultrastructural appearance of iris flocculi associated with a thoracic aortic aneurysm and dissections","volume":"93","author":"Hashida","year":"2009","journal-title":"Br J Ophthalmol"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1136\/bjophthalmol-2018-312306","article-title":"Iris anomalies and the incidence of ACTA2 mutation","volume":"103","author":"Taubenslag","year":"2019","journal-title":"Br J Ophthalmol"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1093\/qjmed\/hcz113","article-title":"Congenital iris flocculi","volume":"113","author":"Yangzes","year":"2020","journal-title":"QJM"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"2437","DOI":"10.1002\/ajmg.a.33657","article-title":"De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction","author":"Milewicz","year":"2010","journal-title":"Am J Med Genet A"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1136\/hrt.2010.204388","article-title":"Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2)","volume":"97","author":"Disabella","year":"2011","journal-title":"Heart"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"1330","DOI":"10.1001\/archopht.1995.01100100118041","article-title":"Iris flocculi and familial aortic dissection","volume":"113","author":"Lewis","year":"1995","journal-title":"Arch Ophthalmol"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"1406","DOI":"10.1002\/humu.21081","article-title":"Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and\/or dissection (TAAD)","volume":"30","author":"Morisaki","year":"2009","journal-title":"Hum Mutat"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"86","DOI":"10.3109\/13816810.2013.833634","article-title":"Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections","volume":"36","author":"Chamney","year":"2015","journal-title":"Ophthalmic Genet"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1159\/000504432","article-title":"Chronological observations of Iris Flocculi in a Japanese family with thoracic aortic aneurysm and dissections","volume":"10","author":"Mori","year":"2019","journal-title":"Case Rep Ophthalmol"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"e26094","DOI":"10.1097\/MD.0000000000026094","article-title":"Persistent anterior tunica vasculosa lentis in multisystemic smooth muscle dysfunction syndrome: a case report","volume":"100","author":"She","year":"2021","journal-title":"Medicine"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1186\/s12886-020-01344-w","article-title":"High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report","volume":"20","author":"Mc Glacken-Byrne","year":"2020","journal-title":"BMC Ophthalmol"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"19096","DOI":"10.1073\/pnas.0910672106","article-title":"Genetic diagnosis by whole exome capture and massively parallel DNA sequencing","volume":"106","author":"Choi","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"1111","DOI":"10.1002\/ajmg.a.63118","article-title":"Neonatal diagnosis of ACTA2-related disease: a case report and review of literature","volume":"191","author":"Lupo","year":"2023","journal-title":"Am J Med Genet A"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/j.preteyeres.2017.10.001","article-title":"Development of the hyaloid, choroidal and retinal vasculatures in the fetal human ocular","volume":"62","author":"Lutty","year":"2018","journal-title":"Prog Retin Ocular Res"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1097\/WNO.0000000000000090","article-title":"Congenital fixed dilated pupils due to ACTA2-multisystemic smooth muscle dysfunction syndrome","volume":"34","author":"Roulez","year":"2014","journal-title":"J Neuroophthalmol"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1159\/000445719","article-title":"Dissecting aortic aneurysm 55 years after diagnosis of Iris Flocculi","volume":"2","author":"Shields","year":"2016","journal-title":"Ocul Oncol Pathol"}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2024.1369884\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,29]],"date-time":"2024-08-29T04:34:01Z","timestamp":1724906041000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2024.1369884\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,29]]},"references-count":18,"alternative-id":["10.3389\/fmed.2024.1369884"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2024.1369884","relation":{},"ISSN":["2296-858X"],"issn-type":[{"type":"electronic","value":"2296-858X"}],"subject":[],"published":{"date-parts":[[2024,8,29]]},"article-number":"1369884"}}