University Of Tasmania
125844 Journal Article.pdf (1.25 MB)
Download file

PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia

Download (1.25 MB)
journal contribution
posted on 2023-05-19, 17:57 authored by Souzeau, E, Rudkin, AK, Dubowsky, A, Casson, RJ, Muecke, JS, Mancel, E, Whiting, M, Mills, RAD, Kathryn BurdonKathryn Burdon, Craig, JE
Purpose: Aniridia is a congenital disorder caused by variants in the PAX6 gene. In this study, we assessed the involvement of PAX6 in patients with aniridia from Australasia and Southeast Asia.

Methods: Twenty-nine individuals with aniridia from 18 families originating from Australia, New Caledonia, Cambodia, Sri Lanka, and Bhutan were included. The PAX6 gene was investigated for sequence variants and analyzed for deletions with multiplex ligation-dependent probe amplification.

Results: We identified 11 sequence variants and six chromosomal deletions, including one in mosaic. Four deleterious sequence variants were novel: p.(Pro81HisfsTer12), p.(Gln274Ter), p.(Ile29Thr), and p.(Met1?). Ocular complications were associated with a progressive loss of visual function as shown by a visual acuity ≤ 1.00 logMAR reported in 65% of eyes. The prevalence of keratopathy was statistically significantly higher in the Australasian cohort (78.6%) compared with the Southeast Asian cohort (9.1%, p=0.002). Variants resulting in protein truncating codons displayed limited genotype-phenotype correlations compared with other variants.

Conclusions: PAX6 variants and deletions were identified in 94% of patients with aniridia from Australasia and Southeast Asia. This study is the first report of aniridia and variations in PAX6 in individuals from Cambodia, Sri Lanka, Bhutan, and New Caledonia, and the largest cohort from Australia.


Publication title

Molecular Vision








Menzies Institute for Medical Research


Molecular Vision

Place of publication

C/O Jeff Boatright, Lab B, 5500 Emory Eye Center, 1327 Clifton Rd, N E, Atlanta, USA, Ga, 30322

Rights statement

© 2018 Molecular Vision. Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives License 3.0, or CC BY-NC-ND 3.0 (see for license terms)

Repository Status

  • Open

Socio-economic Objectives

Clinical health not elsewhere classified

Usage metrics

    University Of Tasmania