Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome
A 4-yr-old girl was referred to our clinic because of uncontrolled intraocular pressure (IOP) under maximal tolerable medical therapy and corneal edema in both eyes. Her best-corrected visual acuity was 20/800 in both eyes. IOP as measured by Goldmann tonometry was 22 mm Hg (reference range: ≤21 mm Hg) in the right eye and 23 mm Hg (reference range: ≤21 mm Hg) in the left eye. The horizontal and vertical corneal diameter of both eyes was 9.5 mm and 10.0 mm, respectively. Posterior embryotoxon and a prominent Schwalbe's line were observed in both eyes. Iridocorneal adhesion and corectopia were also seen, and anterior insertion of the iris into the trabecular meshwork with prominent iris processes was observed by gonioscopic examination in both eyes. The optic disc was difficult to inspect because of corneal edema; the cup-to-disc (CD) ratio appeared to be 0.8 in both eyes. The patient had apparent microdontia.