Corneal Abnormalities in Congenital Aniridia: Congenital Central Corneal Opacity Versus Aniridia-associated Keratopathy.

PURPOSE: To clinically characterize and compare 2 types of corneal abnormalities in patients with congenital aniridia: (1) congenital central corneal opacity from birth (CCO) and (2) aniridia-associated keratopathy (AAK) that develops progressively with age.

DESIGN

Retrospective cohort study.

METHODS

Medical records of Korean patients who were diagnosed with congenital aniridia at Seoul National University Hospital between 1991 and 2016 were reviewed. Prevalence of corneal abnormalities (CCO and AAK), other ocular and systemic comorbidities, severity of AAK depending on the age, logarithm of the minimum angle of resolution (logMAR) visual acuities, and types and results of surgical intervention were collected.

RESULTS

Among a total of 275 eyes (138 patients), 13% (35 eyes, 20 patients) had CCO and 25% (68 eyes, 35 patients) developed AAK. The AAK became prominent at a mean of 21.6 years of age, and the severity progressed with age. Glaucoma was more prevalent in aniridia patients with CCO (74%), compared to those with AAK (37%) (P = .0003). Cataract frequently occurred in patients with AAK (78%), who required cataract surgeries at mean 26.6 years. The logMAR visual acuity was worse in patients with CCO (2.04 ± 0.71) than in those with AAK (1.29 ± 0.62) (P < .0001). Penetrating keratoplasty was performed in 6 eyes with CCO, and the graft survival was 33.3% during mean 45 months of follow-up (range 14-79 months).

CONCLUSIONS

In total, 13% of aniridia patients had CCO at birth, while 25% progressively developed clinically significant AAK with age. The visual outcome was worse in patients with CCO than in those with AAK.