A 25-year-old woman with dental anomalies and redundant periumbilical skin has bilateral elevated IOP. Slit lamp examination shows a prominent white line running horizontally across the posterior corneal surface near the limbus, with strands of peripheral iris tissue bridging toward it. The most likely diagnosis is:
- A Axenfeld-Rieger syndrome ✓
- B Peters anomaly
- C Aniridia-associated glaucoma
- D Primary congenital glaucoma
Explanation
Axenfeld-Rieger syndrome combines posterior embryotoxon (a prominent, centrally displaced Schwalbe line), iris strands adherent to it, and systemic features including dental hypoplasia, facial abnormalities, and redundant periumbilical skin. Roughly half develop glaucoma in adolescence or adulthood. Peters anomaly features a central corneal opacity with lens-cornea adhesion, aniridia involves absent iris tissue rather than extra strands, and primary congenital glaucoma presents in infancy with epiphora and buphthalmos.
Reference: American Academy of Ophthalmology BCSC Glaucoma, Latest ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.