Publication: Axenfeld Rieger Syndrome Presenting with Open Angle Glaucoma in an Adult Patient: A Case Report
Date
2025
Article Type
Original Article
Journal Title
Journal ISSN
JNMA Print ISSN: 0028-2715; Online ISSN: 1815-672X
Volume Title
Pages
Pages: 261 - 263
Publisher
Nepal Medical Association
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.
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
Keywords
Identifier
https://doi.org/10.31729/jnma.8951