Axenfeld-Rieger syndrome

Abstract

Axenfeld-Rieger syndrome is a rare congenital disease that has an autosomal-dominant inheritance pattern. The ophthalmic disorder with the dysgenesis of the anterior segment is what defines the disease. This study presents the case of a 9-month-old still-on-milk male infant who was taken to the ophthalmology department for assessment for presenting "big eyes". No personal or family pathological history was reported. When performing the ophthalmological examination, ocular manifestations were found on biomicroscopy test of the anterior segment: posterior embryotoxon, megalocornea and hypoplastic iris in both eyes. In addition, the patient was assessed at the services of cardiology, orthopedics, maxillofacial surgery, genetics, urology, dermatology and neurology, finding maxillary hypoplasia, redundant skin of the navel, prominence of the frontal bone and presence of heart murmur. A diagnosis of Axenfeld-Rieger syndrome was made. Follow-ups took place every three month and the values of the intraocular pressure have remained normal, as well as the sequential echocardiograms.

Keywords

• eye diseases, hereditary
• intraocular pressure
• eye abnormalities
• diagnostic techniques, ophthalmological