Correlation between electroretinography, foveal anatomy and visual acuity in aniridia due to PAX6 mutations.

Higher amplitude on mfERG correlated with poorer visual acuity in rings 4 and 5 in patients with PAX6 mutations. The slope of the change in amplitude from central to peripheral rings on the mfERG is significantly different in aniridia patients compared to controls, with a slower drop-off of amplitude from center to periphery. Additionally, mfERG in aniridia showed lower amplitudes than controls in rings 1-3. These changes along with the lack of correlation between visual acuity and central macular thickness/OCT score suggest that changes in electrical topography may be important to visual deficits in patients with PAX6 gene mutations.