Clinical and molecular aspects of congenital aniridia – A review of current concepts
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. Th...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2022-01-01
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| Series: | Indian Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.ijo.in/article.asp?issn=0301-4738;year=2022;volume=70;issue=7;spage=2280;epage=2292;aulast=Tibrewal |
| _version_ | 1811294368368164864 |
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| author | Shailja Tibrewal Ria Ratna Abha Gour Sumita Agarkar Suneeta Dubey Suma Ganesh Ramesh Kekunnaya Virender Sangwan Yutao Liu Vanita Vanita |
| author_facet | Shailja Tibrewal Ria Ratna Abha Gour Sumita Agarkar Suneeta Dubey Suma Ganesh Ramesh Kekunnaya Virender Sangwan Yutao Liu Vanita Vanita |
| author_sort | Shailja Tibrewal |
| collection | DOAJ |
| description | 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 PAX6 (Paired box protein Pax-6) gene. Recently, aniridia-like phenotypes have been reported due to non-PAX6 mutations as in PITX2, FOXC1, FOXD3, TRIM44, and CYP1B1 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 PAX6 and non-PAX6 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. |
| first_indexed | 2024-04-13T05:15:30Z |
| format | Article |
| id | doaj.art-4660d1cab00546218edb2080617c9746 |
| institution | Directory Open Access Journal |
| issn | 0301-4738 1998-3689 |
| language | English |
| last_indexed | 2024-04-13T05:15:30Z |
| publishDate | 2022-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Ophthalmology |
| spelling | doaj.art-4660d1cab00546218edb2080617c97462022-12-22T03:00:54ZengWolters Kluwer Medknow PublicationsIndian Journal of Ophthalmology0301-47381998-36892022-01-017072280229210.4103/ijo.IJO_2255_21Clinical and molecular aspects of congenital aniridia – A review of current conceptsShailja TibrewalRia RatnaAbha GourSumita AgarkarSuneeta DubeySuma GaneshRamesh KekunnayaVirender SangwanYutao LiuVanita VanitaCongenital 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 PAX6 (Paired box protein Pax-6) gene. Recently, aniridia-like phenotypes have been reported due to non-PAX6 mutations as in PITX2, FOXC1, FOXD3, TRIM44, and CYP1B1 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 PAX6 and non-PAX6 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.http://www.ijo.in/article.asp?issn=0301-4738;year=2022;volume=70;issue=7;spage=2280;epage=2292;aulast=Tibrewalaniridiageneticsgenotypemutationpax6phenotype |
| spellingShingle | Shailja Tibrewal Ria Ratna Abha Gour Sumita Agarkar Suneeta Dubey Suma Ganesh Ramesh Kekunnaya Virender Sangwan Yutao Liu Vanita Vanita Clinical and molecular aspects of congenital aniridia – A review of current concepts Indian Journal of Ophthalmology aniridia genetics genotype mutation pax6 phenotype |
| title | Clinical and molecular aspects of congenital aniridia – A review of current concepts |
| title_full | Clinical and molecular aspects of congenital aniridia – A review of current concepts |
| title_fullStr | Clinical and molecular aspects of congenital aniridia – A review of current concepts |
| title_full_unstemmed | Clinical and molecular aspects of congenital aniridia – A review of current concepts |
| title_short | Clinical and molecular aspects of congenital aniridia – A review of current concepts |
| title_sort | clinical and molecular aspects of congenital aniridia a review of current concepts |
| topic | aniridia genetics genotype mutation pax6 phenotype |
| url | http://www.ijo.in/article.asp?issn=0301-4738;year=2022;volume=70;issue=7;spage=2280;epage=2292;aulast=Tibrewal |
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