Dr.HAINDAVI NARLA

Dr.SUPERNA MAHENDRA, Dr. VENKATA RATHNAM PERAM

Abstract

To report a rare case of Axenfeld Rieger syndrome in a 38 year old male born of non consanguinity, with normal siblings, who presented to our OPD with complaints of diminished vision in left eye since 1 year. Patient had vision of 6/9 in right eye and PL+ve in left eye. On Anterior segment examination both eyes had Posterior Embryotoxon and essential iris atrophy , left eye had RAPD. On Applanation tonometry pressures were 16mmHg and 48mmHg in RE and LE respectively under no anti glaucoma medication. Both eyes had wide open angles and prominent iris processes on gonioscopy. Fundus examination showed superior rim thinning and inferior notch in RE and LE had TGOA. Patient had short stature , maxillary hypoplasia , dental abnormalities, high arched palate. Patient was advised to use Anti glaucoma medication and review with HVF of RE. Axenfeld Rieger syndrome is an extremely rare Autosomal Dominant disorder characterised by oculo-cranio-facial, dental and periumbilical abnormalities.