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Missed case of Axenfeld-Rieger syndrome: a case report
L Dhir1, K Frimpong-Ansah, Nabil E Habib
1Royal Eye Infirmary, Apsley Road, Plymouth, PL4 6PL, UK. luna_dhir@yahoo.com.
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.
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