Axenfeld–Rieger syndrome in the pediatric population: A review
Axenfeld–Rieger syndrome (ARS) is a rare autosomal-dominant neurocristopathy that presents with a variety of classical ocular and systemic findings. The pathophysiology of the disease involves anterior segment dysgenesis, and patients may present with ophthalmic complications early in life, includin...
| 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=417;epage=424;aulast=Khandwala |
| _version_ | 1797226134125936640 |
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| author | Nikhila S Khandwala Muralidhar Ramappa Deepak P Edward Mehmet C Mocan |
| author_facet | Nikhila S Khandwala Muralidhar Ramappa Deepak P Edward Mehmet C Mocan |
| author_sort | Nikhila S Khandwala |
| collection | DOAJ |
| description | Axenfeld–Rieger syndrome (ARS) is a rare autosomal-dominant neurocristopathy that presents with a variety of classical ocular and systemic findings. The pathophysiology of the disease involves anterior segment dysgenesis, and patients may present with ophthalmic complications early in life, including secondary glaucoma, high refractive errors, amblyopia, and permanent visual damage. There are a limited number of studies in the literature that focus primarily on pediatric patients with ARS. The purpose of this article was to review the current literature on clinical presentation, genetic associations, diagnosis, secondary complications, and treatment of ARS in pediatric patients. Evaluating the essential clinical aspects of the disease in children may allow for earlier diagnosis and treatment and prevent visual morbidity from amblyopia and secondary glaucoma that may result in permanent visual damage. |
| first_indexed | 2024-04-24T14:20:04Z |
| format | Article |
| id | doaj.art-1213c5c4cfc24ad2bb7005b00de94c91 |
| institution | Directory Open Access Journal |
| issn | 2211-5056 2211-5072 |
| language | English |
| last_indexed | 2024-04-24T14:20:04Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Taiwan Journal of Ophthalmology |
| spelling | doaj.art-1213c5c4cfc24ad2bb7005b00de94c912024-04-03T06:45:05ZengWolters Kluwer Medknow PublicationsTaiwan Journal of Ophthalmology2211-50562211-50722023-01-0113441742410.4103/tjo.TJO-D-23-00089Axenfeld–Rieger syndrome in the pediatric population: A reviewNikhila S KhandwalaMuralidhar RamappaDeepak P EdwardMehmet C MocanAxenfeld–Rieger syndrome (ARS) is a rare autosomal-dominant neurocristopathy that presents with a variety of classical ocular and systemic findings. The pathophysiology of the disease involves anterior segment dysgenesis, and patients may present with ophthalmic complications early in life, including secondary glaucoma, high refractive errors, amblyopia, and permanent visual damage. There are a limited number of studies in the literature that focus primarily on pediatric patients with ARS. The purpose of this article was to review the current literature on clinical presentation, genetic associations, diagnosis, secondary complications, and treatment of ARS in pediatric patients. Evaluating the essential clinical aspects of the disease in children may allow for earlier diagnosis and treatment and prevent visual morbidity from amblyopia and secondary glaucoma that may result in permanent visual damage.http://www.e-tjo.org/article.asp?issn=2211-5056;year=2023;volume=13;issue=4;spage=417;epage=424;aulast=Khandwalaamblyopiaaxenfeld–rieger syndromepediatric glaucomasecondary glaucoma |
| spellingShingle | Nikhila S Khandwala Muralidhar Ramappa Deepak P Edward Mehmet C Mocan Axenfeld–Rieger syndrome in the pediatric population: A review Taiwan Journal of Ophthalmology amblyopia axenfeld–rieger syndrome pediatric glaucoma secondary glaucoma |
| title | Axenfeld–Rieger syndrome in the pediatric population: A review |
| title_full | Axenfeld–Rieger syndrome in the pediatric population: A review |
| title_fullStr | Axenfeld–Rieger syndrome in the pediatric population: A review |
| title_full_unstemmed | Axenfeld–Rieger syndrome in the pediatric population: A review |
| title_short | Axenfeld–Rieger syndrome in the pediatric population: A review |
| title_sort | axenfeld rieger syndrome in the pediatric population a review |
| topic | amblyopia axenfeld–rieger syndrome pediatric glaucoma secondary glaucoma |
| url | http://www.e-tjo.org/article.asp?issn=2211-5056;year=2023;volume=13;issue=4;spage=417;epage=424;aulast=Khandwala |
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