Surgical Outcomes in Axenfeld-Rieger Syndrome: A Multicenter Retrospective Analysis.

PURPOSE

To identify risk factors for glaucoma development and evaluate the effectiveness of primary glaucoma surgery in Axenfeld-Rieger syndrome (ARS)-associated glaucoma.

DESIGN

Retrospective comparative interventional case series.

SUBJECTS

Consecutive patients diagnosed with ARS with and without glaucoma before the age of 18 years at 3 tertiary hospitals in Thailand and the United States (2004-2023) were included.

METHODS

Surgical outcomes were defined as: complete success-intraocular pressure (IOP) >5 and ≤21 mmHg with ≥20% reduction from baseline, without glaucoma medication, re-operation, or vision loss; qualified success-same IOP criteria but with medication use.

MAIN OUTCOME MEASURES

Proportion of nonglaucomatous patients/eyes that developed glaucoma, complete and qualified surgical success, and genotyping results.

RESULTS

Ninety-six patients (189 eyes) were included; 97% had bilateral disease, and 50% were male. Genetic testing was performed in over one-third of cases, with a causative gene variant identified in half. During a mean follow-up of 7.5 years, 57.3% developed glaucoma. Risk factors included diagnosis at birth (adjusted odds ratio [aOR] 6.45, 95% confidence interval [CI] 1.61-25.91) and cardiac anomalies (aOR 10.73, 95% CI 1.20-95.55). All patients with a causative FOXC1 variant developed glaucoma. Among those affected, 70% required surgery, typically at a median age of 6 months. At 3-year mark of survival analysis, no procedure achieved >25% complete success. Glaucoma drainage devices had significantly higher qualified success (72.9%) compared to goniotomy (37.8%) or trabeculotomy (27.8%) (P = .013).

CONCLUSIONS

Over half of ARS patients developed glaucoma, with ARS diagnosed at birth, and the presence of cardiac anomalies as major risk factors. While complete surgical success remains low, GDD shows the highest qualified success and may be the preferred primary procedure.