Publication: Axenfeld Rieger Syndrome Presenting with Open Angle Glaucoma in an Adult Patient: A Case Report
| creativeworkseries.issn | JNMA Print ISSN: 0028-2715; Online ISSN: 1815-672X | |
| dc.contributor.author | Thapa, Madhu | |
| dc.contributor.author | Gautam, Pragati | |
| dc.contributor.author | Sitaula, Sanjeeta | |
| dc.date.accessioned | 2025-07-27T08:22:27Z | |
| dc.date.available | 2025-07-27T08:22:27Z | |
| dc.date.issued | 2025 | |
| dc.description | Madhu Thapa Department of Ophthalmology, Maharajgunj Medical Campus, Maharajgunj, Kathmandu, Nepal Pragati Gautam Department of Ophthalmology, Maharajgunj Medical Campus, Maharajgunj, Kathmandu, Nepal Sanjeeta Sitaula Department of Ophthalmology, Maharajgunj Medical Campus, Maharajgunj, Kathmandu, Nepal | |
| dc.description.abstract | Abstract Axenfeld Rieger Syndrome is autosomal dominant genetic condition, which can present with various ocular and non-ocular findings. Anterior segment dysgenesis is the most common ocular finding leading to glaucoma. Non-ocular findings include craniofacial abnormalities, cardiac, dental as well as neurological problems. Mutations in PITX2 and FOXC1 genes have been associated with this condition. FOXC1 mutation causes more ocular findings where as PITX2 mutation has been linked with ocular as well as craniofacial abnormalities. Racial or gender predilection has not been suggested by any literature. Vision loss in these patients is mainly due to uncontrolled glaucoma which needs to be diagnosed and treated urgently. | |
| dc.identifier | https://doi.org/10.31729/jnma.8951 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/761 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Medical Association | |
| dc.title | Axenfeld Rieger Syndrome Presenting with Open Angle Glaucoma in an Adult Patient: A Case Report | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Original Article | |
| oaire.citation.endPage | 263 | |
| oaire.citation.startPage | 261 | |
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| relation.isJournalOfPublication | e6e146a0-0ece-4aba-aa0a-6ccfbd10a12a |