DR. MITALI MANGOLI

DR. SHARVANI PAI, DR. SMITHA K.S., DR. DHRUV GOYAL, DR. EESHITA JAIN

Abstract

Axenfeld Anomaly is a bilateral condition characterized by posterior embryotoxon and is a part of the spectrum of defects seen in Axenfeld – Reiger syndrome.

We report a case of Axenfeld anomaly with atypical features.

A 9 year old female presented with complaints of diminution of vision for distance and near in both the eyes since childhood (OD: PL+, PR Acc, OS:6/60). Anterior segment (AS) examination showed aniridia, congenital cataract, sensory nystagmus and posterior embryotoxon, confirmed on AS Optical Coherence Tomography (OCT). Posterior segment examination showed foveal hypoplasia confirmed by OCT. Crowning of teeth noted. A diagnosis of ARS was made. She underwent OD Phacoemulsification + PCIOL Implantation. The 1 week post-op pin hole VA was OD- 6/36.

Her elder brother, 11 years old had OD phthisis bulbi, OS- congenital cataract, aniridia, posterior embryotoxon, subluxated lens and sensory nystagmus. Signs of ocular surface disorder were noted. Crowning of teeth was seen.