Unusual presentation in Axenfeld-Rieger syndrome

Area of Science:

• Ophthalmology
• Genetics
• Medical Case Reports

Background:

• Axenfeld-Rieger syndrome (A-R) is a rare genetic disorder affecting eye development.
• It is characterized by abnormalities of the anterior segment, including the iris, cornea, and trabecular meshwork.
• A-R syndrome is associated with a high risk of early-onset glaucoma.

Observation:

• A 14-year-old male presented with progressive vision loss and acute eye redness.
• Ocular examination revealed megalocornea, Haab's striae, and posterior embryotoxon.
• A distinctive white, cord-like structure was observed in the anterior chamber of the left eye, adhering to the iris.

Findings:

• Gonioscopy confirmed the cord-like structure originated at Schwalbe's line.
• Intraocular pressure (IOP) was managed with antiglaucoma medications, with readings of 22 mm Hg (right) and 18 mm Hg (left).
• The patient underwent trabeculectomy with mitomycin-C in the right eye.

Implications:

• This case highlights an unusual and rare presentation of Axenfeld-Rieger syndrome.
• The presence of the unique cord-like structure offers insights into the spectrum of A-R syndrome's ocular manifestations.
• Understanding such rare presentations is crucial for accurate diagnosis and management of A-R syndrome and associated glaucoma.