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

<b>Background/Objectives</b>: <i>PAX6</i> 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 <i>PAX6</i> haploinsufficiency-related classical congenital aniridia using a non-contact device. <b>Methods</b>: 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. <b>Results</b>: Linear mixed-effects models showed significant effects of diagnosis on CCT (β = 182.39, <i>p</i> < 0.001), CD (β = -0.55, <i>p</i> = 0.02), and K-mean (β = -1.10, <i>p</i> = 0.03), while axial length was associated with gender (β = -0.90, <i>p</i> = 0.03). Mann-Whitney testing showed no interocular asymmetry (all <i>p</i> ≥ 0.07; η<sup>2</sup> ≤ 0.04) overall. <b>Conclusions</b>: <i>PAX6</i>-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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Journal
Journal of Clinical Medicine
Published
2026-02-27
DOI
https://doi.org/10.3390/jcm15051805
Primary Topic
Developmental Biology and Gene Regulation
Type
article
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article

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

Mária Bausz, Béla Csákány, Anita Csorba, Annamária Náray et al.
Journal of Clinical Medicine
Developmental Biology and Gene Regulation
article

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

Mária Bausz, Béla Csákány, Anita Csorba, Annamária Náray, Eszter Jávorszky, Nóra Szentmáry, Kitti Kormányos, Mária Csidey, Erika Maka, Orsolya Németh, Dorottya Szabó, Andrea Szigeti, Klaudia Kéki-Kovács, Zoltán Zsolt Nagy, Kálmán Tory, Krisztina Knézy, Achim Langenbucher
article en

Abstract

<b>Background/Objectives</b>: <i>PAX6</i> 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 <i>PAX6</i> haploinsufficiency-related classical congenital aniridia using a non-contact device. <b>Methods</b>: 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. <b>Results</b>: Linear mixed-effects models showed significant effects of diagnosis on CCT (β = 182.39, <i>p</i> < 0.001), CD (β = -0.55, <i>p</i> = 0.02), and K-mean (β = -1.10, <i>p</i> = 0.03), while axial length was associated with gender (β = -0.90, <i>p</i> = 0.03). Mann-Whitney testing showed no interocular asymmetry (all <i>p</i> ≥ 0.07; η<sup>2</sup> ≤ 0.04) overall. <b>Conclusions</b>: <i>PAX6</i>-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.

Journal of Clinical MedicineVol. 15(5)
Semmelweis University (HU), Instituto de Salud Carlos III (ES), Heim Pál Országos Gyermekgyógyászati Intézet (HU), Centre for Biomedical Network Research on Rare Diseases (ES), Hospital Universitario Fundación Jiménez Díaz (ES), Markusovszky Egyetemi Oktatókórház (HU), Universidad Autónoma de Madrid (ES), Hungarian Academy of Sciences (HU), Saarland University (DE)
Dr. Rolf M. Schwiete Stiftung
Gender equality
Openalex Percentile: Top 40%
Developmental Biology and Gene Regulation
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