Association of aniridia and dry eyes

Purpose: To study the association between congenital aniridia and dry eyes, and the status of limbal stem cells. Design: Single-center, retrospective, noninterventional, comparative case series. Participants: Twenty patients (36 eyes) diagnosed with congenital aniridia. Methods: Retrospective review of medical records at the King Khaled Eye Specialist Hospital in Riyadh, Saudi Arabia to identify all cases of congenital aniridia. Selected patients were requested to undergo further testing, especially for evaluation of dry eyes. Full ocular examinations were performed, including examination of the meibomian gland orifices and dry eye evaluation (by predetermined criteria of tear breakup time, tear meniscus level, presence of mucoid secretions, Schirmer's test with and without anesthesia, and fluorescein and rose Bengal staining patterns of the cornea and conjunctiva). Cytological evaluation was performed in 23 aniridic eyes by impression cytology to determine limbal stem cell status relative to control normal eyes. Main Outcome Measures: Abnormal tear film production and stability, meibomian gland dysfunction, severity of corneal involvement, and limbal stem cell deficiency. Results: Twenty patients (36 eyes) diagnosed with congenital aniridia were classified into 3 groups according to the severity of corneal involvement: mild (2 eyes), moderate (21 eyes), and advanced (13 eyes) corneal changes. Tear breakup time was reduced by an average of 5 seconds in 90.7% of cases, tear meniscus levels were reduced to < 0.5 mm in 88.6% of cases, and stenosed meibomian orifices were found in 77.8% of patients. Dry eyes (94%) correlated with the severity of corneal involvement (P = 0.001). Impression cytology revealed metaplasia in all tested cases. Furthermore, 8 of 23 eyes (35%) and 15 of 23 eyes (65%) had early and advanced limbal stem cell deficiency, respectively. Conclusions: Abnormal tear film stability and meibomian gland dysfunction are newly identified factors in patients with aniridia. Both correlate to the severity of ocular surface disease. Impression cytology is informative in diagnosing various degrees of limbal stem cell deficiency, which is present in all tested aniridia eyes.