Missed case of Axenfeld-Rieger syndrome: a case report

BACKGROUND: Anterior segment dysgenesis is a failure of normal development of the anterior segment of the eye. The structural anomalies are associated with glaucoma and corneal opacity which may lead to blindness. CASE PRESENTATION: A Caucasian male was noted to have 'funny pupils' at the age of seven years but not followed up. He was diagnosed to have Axenfeld-Rieger syndrome at the age of thirty four years when he presented with glaucoma and visual field loss. CONCLUSION: Axenfeld-Rieger syndrome is uncommon. There is risk of sight loss due to glaucoma and corneal opacity. Importance of long-term follow up in cases of abnormal ocular findings in early life is emphasised.