Axenfeld-Reiger syndrome: A search for the missing links

BACKGROUND: Axenfeld-Rieger syndrome (ARS) is a rare cause of congenital glaucoma and may result in loss of vision. ARS is mostly autosomal dominant in nature characterized by developmental abnormalities in the angle of anterior chamber and iris of the eye, also associated with structural abnormalities in the body. AIM: To study and observe the demographics and clinical findings in a very rare ocular disease known as ARS. METHODS: Case records of symptomatic patients attending Ophthalmology outpatient department and diagnosed to have ocular hypertension or glaucoma in 3 years from March 2017 to March 2020 were evaluated to search for cases diagnosed with ARS. Records of all patients diagnosed with ARS were then analysed for demographic and clinical characterization as well as management and success of therapy. RESULTS: Eight out of ten patients with positive clinical signs were symptomatic and had glaucoma. One of these patients had limbal stem cell deficiency and another had vernal keratoconjunctivitis. CONCLUSION: Clinical characterization of ARS is important for making a definitive diagnosis and determining prognosis.