PAX6 methylation and myopia
Reviewed by Ian Reekie

The authors present a case control study of 41 adolescents (age 12–14) with myopia and 39 age- and sex-matched non-myopic controls. The myopic patients were sub-divided into mild, moderate and severe myopia subgroups. DNA was extracted from peripheral blood samples and PAX6 promoter methylation was quantified using pyrosequencing. The study demonstrated that the myopic patients had a greater degree of PAX6 promoter methylation than the controls. Interestingly however the subgroup analysis showed a decreasing level of promoter methylation with increasing degree of myopia, and the severe myopia group actually had a lower methylation level than the non-myopic control group. The authors suggest that the results show that epigenetic modification of PAX6, a gene of well-known importance in eye development, may be important in the onset and progression of myopia. They do not however provide an explanation of the decreasing promoter methylation with increasing severity of myopia, and the overall difference between myopia and non-myopia groups, though statistically significant by ANOVA, was small.

PAX6 gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot study.
Jiang D, Lin S, Gong Q, et al.
OPHTHALMIC GENETICS
2024;45(3):219–25.