Humphrey visual fields and optical coherence tomography findings in patients with the Axenfeld-Rieger syndrome: a...

Axenfeld-Rieger syndrome is characterized by clinical characteristics including: ocular, craniofacial, dental, umbilical, and other systemic abnormalities. Previous studies have reported that the Axenfeld-Rieger syndrome (ARS) occurs in one out of 200,000 patients.

To study patients with the ARS in a sub-urban community in Puerto Rico.

We conducted a non-concurrent study of 17,800 patients. Of these, 57 patients had the syndrome. Every patient had a comprehensive ophthalmology evaluation.

A frequency of 320 per 100,000 was found in the studied population. Using Humphrey's visual field analyzer, we found a mean deviation of less than -2.00 dB in 56.4 and 60.5 percent of the right and left eye respectively. OCT evaluation of the optic nerve rim showed glaucomatous changes in 29.2 and 41.7 percent of the right and left eyes respectively. OCT evaluation of the retinal nerve fiber layer showed glaucomatous changes in 20.8 and 16.7 percent of the right and left eyes respectively.

The frequency of patients with the syndrome in Puerto Rico is higher than in other populations reported in the literature. Also, the percent of patients with glaucoma is higher than previously reported. A relationship between hemochromatosis and ARS has not been previously described. Further studies will elucidate the genetics of Axenfeld-Rieger syndrome in Puerto Rico.