Axenfeld Rieger Syndrome Presenting with Open Angle Glaucoma in an Adult Patient: A Case Report

Authors

  • 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

DOI:

https://doi.org/10.31729/jnma.8951

Keywords:

anterior segment dysgenesis, Axenfeld Rieger Syndrome, glaucoma.

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.

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Published

2025-03-31

How to Cite

Thapa, M., Gautam, P. ., & Sitaula, S. (2025). Axenfeld Rieger Syndrome Presenting with Open Angle Glaucoma in an Adult Patient: A Case Report. Journal of Nepal Medical Association, 63(284), 261–263. https://doi.org/10.31729/jnma.8951

Issue

Vol. 63 No. 284 (2025): JNMA: Published Monthly

Section

Case Reports

License

Copyright (c) 2025 Madhu Thapa, Pragati Gautam, Sanjeeta Sitaula

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