New horizons in aniridia management: Clinical insights and therapeutic advances
Congenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been proposed to understand and explain the pathogenesis of aniridia. In the majority of cases, aniridia is caused by a mutation in the...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Taiwan Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.e-tjo.org/article.asp?issn=2211-5056;year=2023;volume=13;issue=4;spage=467;epage=478;aulast=Gour |
| _version_ | 1797226195402620928 |
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| author | Abha Gour Shailaja Tibrewal Aastha Garg Mehak Vohra Ria Ratna Virender Singh Sangwan |
| author_facet | Abha Gour Shailaja Tibrewal Aastha Garg Mehak Vohra Ria Ratna Virender Singh Sangwan |
| author_sort | Abha Gour |
| collection | DOAJ |
| description | Congenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been proposed to understand and explain the pathogenesis of aniridia. In the majority of cases, aniridia is caused by a mutation in the PAX6 gene, which affects multiple structures within the eye. Treating these ocular complications is challenging and carries a high risk of side effects. However, emerging approaches for the treatment of aniridia-associated keratopathy, iris abnormalities, cataract abnormalities, and foveal hypoplasia show promise for improved outcomes. Genetic counseling plays a very important role to make informed choices. We also provide an overview of the newer diagnostic and therapeutic approaches such as next generation sequencing, gene therapy, in vivo silencing, and miRNA modulation. |
| first_indexed | 2024-04-24T14:21:03Z |
| format | Article |
| id | doaj.art-ffda350475cc4cc7a579fa3bcf42e32c |
| institution | Directory Open Access Journal |
| issn | 2211-5056 2211-5072 |
| language | English |
| last_indexed | 2024-04-24T14:21:03Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Taiwan Journal of Ophthalmology |
| spelling | doaj.art-ffda350475cc4cc7a579fa3bcf42e32c2024-04-03T06:45:05ZengWolters Kluwer Medknow PublicationsTaiwan Journal of Ophthalmology2211-50562211-50722023-01-0113446747810.4103/tjo.TJO-D-23-00140New horizons in aniridia management: Clinical insights and therapeutic advancesAbha GourShailaja TibrewalAastha GargMehak VohraRia RatnaVirender Singh SangwanCongenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been proposed to understand and explain the pathogenesis of aniridia. In the majority of cases, aniridia is caused by a mutation in the PAX6 gene, which affects multiple structures within the eye. Treating these ocular complications is challenging and carries a high risk of side effects. However, emerging approaches for the treatment of aniridia-associated keratopathy, iris abnormalities, cataract abnormalities, and foveal hypoplasia show promise for improved outcomes. Genetic counseling plays a very important role to make informed choices. We also provide an overview of the newer diagnostic and therapeutic approaches such as next generation sequencing, gene therapy, in vivo silencing, and miRNA modulation.http://www.e-tjo.org/article.asp?issn=2211-5056;year=2023;volume=13;issue=4;spage=467;epage=478;aulast=Gourcongenital aniridiapax6 gene mutationsaniridia-associated keratopathy (aak)clustered regularly interspaced short palindromic repeats (crispr)/crispr-associated protein 9 (cas9) |
| spellingShingle | Abha Gour Shailaja Tibrewal Aastha Garg Mehak Vohra Ria Ratna Virender Singh Sangwan New horizons in aniridia management: Clinical insights and therapeutic advances Taiwan Journal of Ophthalmology congenital aniridia pax6 gene mutations aniridia-associated keratopathy (aak) clustered regularly interspaced short palindromic repeats (crispr)/crispr-associated protein 9 (cas9) |
| title | New horizons in aniridia management: Clinical insights and therapeutic advances |
| title_full | New horizons in aniridia management: Clinical insights and therapeutic advances |
| title_fullStr | New horizons in aniridia management: Clinical insights and therapeutic advances |
| title_full_unstemmed | New horizons in aniridia management: Clinical insights and therapeutic advances |
| title_short | New horizons in aniridia management: Clinical insights and therapeutic advances |
| title_sort | new horizons in aniridia management clinical insights and therapeutic advances |
| topic | congenital aniridia pax6 gene mutations aniridia-associated keratopathy (aak) clustered regularly interspaced short palindromic repeats (crispr)/crispr-associated protein 9 (cas9) |
| url | http://www.e-tjo.org/article.asp?issn=2211-5056;year=2023;volume=13;issue=4;spage=467;epage=478;aulast=Gour |
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