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

## TL;DR

This case report describes an adult with Axenfeld Rieger Syndrome who developed open-angle glaucoma, highlighting the condition's ocular and non-ocular complications.

## Contribution

The report adds a rare adult case of Axenfeld Rieger Syndrome presenting with open-angle glaucoma, emphasizing the need for early diagnosis.

## Key findings

- Axenfeld Rieger Syndrome can present with open-angle glaucoma in adults.
- Mutations in PITX2 and FOXC1 genes are linked to the syndrome's ocular and craniofacial features.
- Uncontrolled glaucoma is the primary cause of vision loss in these patients.

## 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.