Heritability of the morphology of optic nerve head and surrounding structures: The Healthy Twin Study

Optic nerve head (ONH) and surrounding structures such as β-zone peripapillary atrophy (PPA) are important structures in glaucomatous pathogenesis. Thus, for understanding genetic components in glaucoma pathogenesis, it is necessary to evaluate the heritability of ONH and surrounding structures. The present study investigated the genetic influences on ONH and surrounding structures such as β-zone PPA and retinal vessels.

A total of 1,205 adult twins and their family members (362 monozygotic (MZ) twin subjects (181 pairs), 64 dizygotic (DZ) twin subjects (32 pairs), and 779 singletons from 261 families), were part of the Korean Healthy Twin Study. ONH parameters including the vertical cup-to-disc ratio, the presence, the area and the location of β-zone PPA and the angular location of retinal vein were measured. The genetic influences on the structures were evaluated using variance-component methods.

The intraclass correlation coefficient (ICC) values of axial length were highest among the parameters. The ICCs of the area and location of PPA were similar to those of vertical cup-to-disc ratio. However, retinal vessel angular locations showed low ICC values even in MZ twins. After age and sex adjustment, for axial length, vertical cup-to-disc ratio, the presence, area and location of PPA, the estimated narrow-sense heritability was 0.85, 0.48, 0.76, 0.50 and 0.65 in the right eye and 0.84, 0.47, 0.72, 0.46 and 0.72 in the left eye, respectively. The estimated narrow-sense heritability of angular location of the superior and inferior vein was 0.17 and 0.12 in the right eye and 0.13 and 0.05 in the left eye, respectively.

ONH and surrounding structures such as vertical cup-to-disc ratio and the presence, the area and the location of β-zone PPA seemed to be determined by the substantial genetic influence, whereas the venous angular location did not.