Impact of PAX6-Related Congenital Aniridia on Corneal Diameter, Central Corneal Thickness and Keratometry

TL;DR

This study finds that PAX6-related congenital aniridia affects corneal thickness, diameter, and curvature, with implications for eye surgery planning.

Contribution

The study identifies specific biometric differences in PAX6-related aniridia using a non-contact device, highlighting surgical implications.

Findings

Eyes with PAX6-related aniridia have increased central corneal thickness and reduced corneal diameter and keratometric values.

Axial length is more influenced by gender than by aniridia diagnosis.

No significant interocular asymmetry was observed in aniridia patients.

Abstract

Background/Objectives: PAX6 haploinsufficiency-related congenital aniridia is a panocular disease affecting multiple ocular structures. The aim of this study was to determine the biometric properties of eyes affected by PAX6 haploinsufficiency-related classical congenital aniridia using a non-contact device. Methods: Fifty-nine eyes from 31 aniridia patients (48.39% male; mean age 27.0 ± 17.65 years, range 7–56) and 99 eyes from 50 healthy controls (44.00% male; mean age 28.56 ± 21.73 years, range 4–81) were examined using the Movu biometer (Argos Inc.). Axial length (AL), corneal diameter (CD), central corneal thickness (CCT), anterior chamber depth (ACD), lens thickness (LT), pupil size (PS), and mean keratometric value (K-mean) were measured. Results: Linear mixed-effects models showed significant effects of diagnosis on CCT (β = 182.39, p < 0.001), CD (β = −0.55, p = 0.02), and K-mean (β = −1.10, p = 0.03), while axial length was associated with gender (β = −0.90, p = 0.03). Mann–Whitney testing showed no interocular asymmetry (all p ≥ 0.07; η2 ≤ 0.04) overall. Conclusions: PAX6-related congenital aniridia eyes are associated with increased CCT and reduced CD, and K-mean, while AL appears to be mainly influenced by gender. The absence of marked interocular asymmetry suggests relatively symmetrical bilateral involvement. These differences should be considered in corneal and lens surgery planning.

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