Axenfeld's Anomaly in a 38-year-old patient

Introduction : Anterior segment dysgenesis refers to a spectrum of developmental abnormalities, resulting from aberrations in the migration and differentiation of the neural crest cells. Here, we report the case of a 38-year-old woman with an isolated Axenfeld anomaly diagnosed late. Case Report : this patient had had blurred vision complaints, her best corrected visual acuity was 10/10 in the right eye and 7/10 in the left eye. Slit lamp examination showed bilateral posterior embryotoxon, more evident in the left eye, as a whitish irregular peripheral retrocorneal ring, the pupil is centered undistorted, with a small tab attached to the iris periphery and floating in the anterior chamber. Intraocular pressure was normal in both eyes. Gonioscopy showed a remnants of ruptured iridocorneal strands, which were well demonstrated by anterior segment OCT examination. The fundoscopy was normal and revealed no signs of glaucomatous optic nerve damage, sustained by a normal papillary OCT examination. The diagnosis of isolated Axenfeld anomaly was retained, requiring regular monitoring of intraocular pressure. Discussion : Axenfeld's anomaly is a rare autosomal dominant pathology, characterized by the association of a posterior embryotoxon and adhesions between the base of the iris and the posterior embryotoxon, causing, if they are not broken, pupil deformity. Although banal, this anomaly justifies regular monitoring of the intraocular pressure, as there is a risk of secondary glaucoma. Conclusion : Axenfeld anomaly, as well as posterior embryotoxon, can be diagnosed late in adulthood and requiring regular monitoring to detect early glaucoma.