The Correlation Between Meibomian Gland Dysfunction and Aniridia-Associated Keratopathy: A Prospective Analysis

TL;DR

This study shows that Meibomian Gland Dysfunction worsens Aniridia-Associated Keratopathy and vision loss in people with aniridia, highlighting the need for early detection and treatment.

Contribution

The study establishes a strong correlation between MGD severity and AAK progression in aniridia, emphasizing meibography as a diagnostic tool.

Findings

MGD was significantly more prevalent and severe in aniridia patients compared to controls.

A strong positive correlation was found between MGD severity and AAK grade.

Both MGD and AAK were strongly associated with reduced visual acuity.

Abstract

Background/Objectives: Aniridia is a rare congenital disorder characterized by structural and functional abnormalities in ocular development due to PAX6 haploinsufficiency, leading to complications such as aniridia-associated keratopathy (AAK). Meibomian gland dysfunction (MGD), a prevalent yet underexplored condition in aniridia, exacerbates tear film instability and chronic ocular surface inflammation, contributing to AAK progression. This study investigates the relationship between MGD severity and AAK in individuals with aniridia. Methods: This prospective randomized study included 113 participants (53 with aniridia and 60 controls). Comprehensive ophthalmic evaluations, including noninvasive meibography, were performed. The MGD severity was assessed using a standardized meiboscore scale, while the AAK severity was classified according to established clinical grading criteria. Statistical analyses, including Spearman’s correlation and chi-squared tests, were used to evaluate the relationships among MGD, AAK, and visual acuity. Results: MGD was significantly more prevalent and severe in the aniridia group compared to controls (p < 0.00001). A strong positive correlation was observed between MGD severity and AAK grade (r = 0.72, p < 0.00001), with both conditions associated with reduced best-corrected visual acuity (BCVA; r = −0.80 and −0.86, respectively, p < 0.0001). Age was positively correlated with MGD (r = 0.47, p = 0.0004) and AAK (r = 0.34, p = 0.0123), with gender-specific trends observed in females. Conclusions: MGD significantly contributes to AAK progression and visual impairment in aniridia. Meibography offers valuable insights into MGD severity, supporting early diagnosis and targeted interventions. Addressing MGD through tailored therapies could mitigate AAK progression and improve visual outcomes in this challenging condition.

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