Effect of PAX6 mutation on retinal function: an electroretinographic tudy Original Reearch Article

PURPOE: To invetigate the retinal function in aniridic patient with documented PAX6 mutation to determine the range of electroretinogram abnormalitie in aniridic patient and to relate electroretinogram finding with pecific PAX6 mutation. METHOD: Eleven patient with typical aniridia and fully characterized PAX6 mutation underwent electroretinography. REULT: In all 11 patient, electroretinogram recording were abnormal, ranging from mild to evere. Rod-related and cone-related activitie were equally affected. The amplitude of the ocillatory potential wa the mot reduced, followed by the b-wave, then to a milder degree the a-wave. Mutation affecting the paired domain of the PAX6 protein had the bigget impact on the electroretinogram amplitude. Implicit time were increaed in a ubgroup with mutation affecting only the homeodomain. CONCLUION: Patient with aniridia have varying degree of retinal dyfunction, ranging from everely abnormal to almot normal. The paired domain appear to have more impact on retinal function than other region of the PAX6 protein. It i unclear whether mutation affecting the homeodomain lead to alteration of the photoreceptor function.