Vitrectomy for Retinoschisis in Papillorenal Syndrome Related to PAX2 Mutation

A 36-year-old woman with a history of kidney transplantation presented with visual disturbance in the right eye. Optic disc excavation, absence of central retinal vessels, numerous cilioretinal vessels in both eyes, and macular thickening were noted in the right eye (A and B). A PAX2 mutation was confirmed by genetic testing. OCT showed schisis of the outer plexiform and nerve fiber layers and foveal detachment with outer macular hole (C). The patient underwent vitrectomy with gas tamponade. The retina was reattached 1 year after surgery (D), and final visual acuity in the right eye improved from 20/200 to 20/63 (Magnified version of Figure A-D is available online at www.aaojournal.org).