Bilateral Macular Detachment Caused by Bilateral Optic Nerve Malformation in a Papillorenal Syndrome Due to a New Pax2 Mutation

Abstract

PAX2 is involved in the optic vesicles, genital tracts, kidney, and central nervous system embryogenic development. The association of optic nerve and renal malformations should lead to the suspicion of papillorenal syndrome with PAX2 mutation.