The heritability of the ring-like distribution of macular pigment assessed in a twin study

Purpose. It has been suggested that ring-like patterns of macular pigment, as measured with dual wavelength autofluorescence, are observed less frequently in subjects with age-related maculopathy. We explored relative contributions of genetic and environmental factors in macular pigment optical density (MPOD) distributions using a classic twin study. Methods. As part of a previous nutritional study, 322 healthy Caucasian female twins, aged 16 to 50 (mean 40) years, underwent measurement of MPOD optical density by two-wavelength fundus autofluorescence. In the present study, the right eye MPOD profile was assessed for the presence of a ring-like pattern by two graders independently, using common criteria, with a third grader arbitrating in cases of disagreement. Concordance was calculated as 2C/(2C {thorn} D), where C is the number of twin pairs concordant, and D the number discordant, for the ring-like pattern. Also, heritability was calculated using maximum-likelihood structural equation modeling. Results. Images and zygosity data were available for 314 twins (88 monozygotic [MZ] and 69 dizygotic [DZ] pairs). The overall prevalence of the ring pattern was 25.8%. Respective concordances for MZ and DZ twins were 0.75 and 0.22. Additive genetic factors were estimated to contribute to 84.0% of the total variance (95% confidence intervals, 63.7%- 94.6%). Conclusions. Concordance for MZ twins was over three times that for DZ twins, with heritability estimated at 84%, indicating that genetic factors contribute to the development of the ring structure. Studies have suggested that ring-like patterns of macular pigment can affect risk for age-related maculopathy. In a classic twin study, we found that the presence of such a pattern was highly heritable.