{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T15:27:44Z","timestamp":1787758064418,"version":"build-2784847793"},"reference-count":100,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"7","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:p>\n                    Congenital aniridia is a pan ocular disorder characterized by partial or total loss of iris tissue as the defining feature. Classic aniridia, however, has a spectrum of ocular findings, including foveal hypoplasia, optic nerve hypoplasia, nystagmus, late-onset cataract, glaucoma, and keratopathy. The latter three are reasons for further visual compromise in such patients. This entity is often due to mutations in the\n                    <jats:italic toggle=\"yes\">PAX6<\/jats:italic>\n                    (Paired box protein Pax-6) gene. Recently, aniridia-like phenotypes have been reported due to non-\n                    <jats:italic toggle=\"yes\">PAX6<\/jats:italic>\n                    mutations as in\n                    <jats:italic toggle=\"yes\">PITX2, FOXC1, FOXD3, TRIM44<\/jats:italic>\n                    , and\n                    <jats:italic toggle=\"yes\">CYP1B1<\/jats:italic>\n                    as well wherein there is an overlap of aniridia, such as iris defects with congenital glaucoma or anterior segment dysgenesis. In this review, we describe the various clinical features of classic aniridia, the comorbidities and their management, the mutation spectrum of the genes involved, genotype-phenotype correlation of\n                    <jats:italic toggle=\"yes\">PAX6<\/jats:italic>\n                    and non-\n                    <jats:italic toggle=\"yes\">PAX6<\/jats:italic>\n                    mutations, and the genetic testing plan. The various systemic associations and their implications in screening and genetic testing have been discussed. Finally, the future course of aniridia treatment in the form of drugs (such as ataluren) and targeted gene therapy has been discussed.\n                  <\/jats:p>","DOI":"10.4103\/ijo.ijo_2255_21","type":"journal-article","created":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T06:28:32Z","timestamp":1657607312000},"page":"2280-2292","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":22,"title":["Clinical and molecular aspects of congenital aniridia \u2013 A review of current concepts"],"prefix":"10.4103","volume":"70","author":[{"given":"Shailja","family":"Tibrewal","sequence":"first","affiliation":[{"name":"Department of Ocular Genetics, Daryaganj, New Delhi, India"},{"name":"Department of Pediatric Ophthalmology, Strabismus and Neuro-ophthalmology, Daryaganj, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ria","family":"Ratna","sequence":"additional","affiliation":[{"name":"Department of Ocular Genetics, Daryaganj, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abha","family":"Gour","sequence":"additional","affiliation":[{"name":"Department of Cornea and Anterior Segment, Daryaganj, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumita","family":"Agarkar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology and Strabismus, Medical Research Foundation, Sankara Netralaya, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suneeta","family":"Dubey","sequence":"additional","affiliation":[{"name":"Department of Glaucoma, Dr Shroff\u2019s Charity Eye Hospital, Daryaganj, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suma","family":"Ganesh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology, Strabismus and Neuro-ophthalmology, Daryaganj, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramesh","family":"Kekunnaya","sequence":"additional","affiliation":[{"name":"Child Sight Institute, Jasti V Ramanamma Children\u2019s Eye Care Centre, L V Prasad Eye Institute, KAR Campus, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virender","family":"Sangwan","sequence":"additional","affiliation":[{"name":"Department of Cornea and Anterior Segment, Daryaganj, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutao","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Cellular Biology and Anatomy, Center for Biotechnology and Genomic Medicine, Augusta University, Augusta, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanita","family":"Vanita","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2022,6,30]]},"reference":[{"key":"B1-20240828","first-page":"677","article-title":"Observazionipratichesulle principal:Malattiedegliorchi, Milano 1818 Tomo 2, 349 as cited by Jungke C:Veber den angeborrenmangel der iris","volume":"2","author":"Barrata","year":"1821","journal-title":"J ChirAugen-Heilkunde (Berlin)"},{"key":"B2-20240828","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/0039-6257(84)90184-X","article-title":"Aniridia. 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