Abstract

A 12 years old female child with developmental delay came with complaints of watering of eyes for the past 1 year.On examination child was short- statured and malnourished.Ocular examination showed horizontal Jerky nystagmus.The Best corrected visual acuity was 6/60 in both eyes.Anterior segment examination showed Megalocornea,Posterior embryotoxon and Iris strands.Intraocular pressure was 25 mmHg in Right eye and 34 mmHg in Left eye measured by Goldmann ’s Applanation tonometry.Dental examination revealed presence of microdontia, hypodontia and peg- shaped teeth.Orthopedic evaluation revealed Scoliosis,Spina -bifida occulta,subluxation of patella,flexion deformity of bilateral knee and wrist with fused carpal bones.Systemic investigations were normal except for an elevated serum Alkaline phosphatase level.However, Ultrasound abdomen was normal.A Diagnosis of Axenfeld -Rieger syndrome was made and Child was started on Anti-glaucoma medications and advised for Periodic follow up.