Aniridic Glaucoma: Long-term Visual Outcomes and Phenotypic Associations

Area of Science:

• Ophthalmology
• Glaucoma Research
• Genetics

Background:

• Aniridic glaucoma is a severe form of glaucoma associated with the absence of the iris.
• Patients with aniridia often experience significant visual impairment and complications.

Purpose of the Study:

• To evaluate the long-term visual outcomes in patients diagnosed with aniridic glaucoma after the age of five.
• To identify factors associated with poor visual prognosis in this patient cohort.

Main Methods:

• Retrospective analysis of medical records from 64 patients (128 eyes) with aniridic glaucoma.
• Data collected included age at presentation, family history, baseline intraocular pressure (IOP), surgical interventions, and comorbidities.
• Best corrected visual acuity (BCVA) in the better eye was the primary outcome measure.

Main Results:

• Mean age at presentation was 15.86 years, with an average follow-up of 7.69 years.
• At final follow-up, only 26.5% of patients had BCVA better than 6/60, and 5 patients had BCVA >6/18.
• Higher baseline IOP, familial aniridia, and increased number of surgical interventions were significantly associated with poorer visual outcomes (P<0.05).
• The probability of bilateral blindness was 69.8% at 5 years and 97.6% at 10 years.

Conclusions:

• Long-term visual outcomes for patients with aniridic glaucoma remain significantly poor despite therapeutic interventions.
• Key factors predicting poor visual outcomes include elevated baseline IOP, familial aniridia, and a history of multiple surgical procedures.
• Aniridic glaucoma poses a substantial risk for progressive vision loss and blindness.