Aniridia with Preerved Viual Function: A Report of Four Cae with No Mutation in PAX6 Original Reearch Article

Purpoe To report four patient with aniridia, preerved viual function, and no detectable mutation in PAX6. Deign Retropective cae erie. Method The clinical record and molecular genetic finding of four patient from three clinical practice were reviewed retropectively. Reult All four patient had anterior egment finding characteritic of aniridia with good viion, no nytagmu in three of four patient, and no mutation on PAX6. An optical coherence tomography tudy from one of the patient howed a very hallow foveal pit. At the latet examination, none of the patient demontrated a Wilm tumor. Concluion Thee four cae provide evidence for genetic heterogeneity in aniridia. In aniridic patient without a PAX6 mutation, viion eem to be relatively well preerved.