ABSTRACT
PURPOSE: To assess the relative influence of genetic and environmental factors on optic disc size and cup/disc ratio in healthy eyes. METHODS: A sample of 55 monozygotic and 50 dizygotic healthy twin pairs aged 20-46, all having the same sex within pairs (47 pairs were male) had optic discs measured from colour fundus photographs according to the Wisconsin Protocol. Structural equation modelling was used to estimate the relative contribution of genetic and environmental factors to the phenotype. RESULTS: Disc dimensions did not vary significantly by age or sex. After adjusting for age and sex, additive genetic factors (i.e. heritability) explained 77% (95% CI: 65-85%) of variation of vertical disc diameters, whereas estimated unshared environmental effect was 23% (95% CI: 15-35%). For vertical cup diameters, heritability accounted for 70% (95% CI: 55-80%) and environmental factors 30% (95% CI: 20-45%). For cup/disc ratio, additive genetic and unshared environmental factors explained 66% (95% CI: 48-77%) and 34% (95% CI: 23-52%) of the variations, respectively. DISCUSSION: In this healthy twin sample, we found that three quarters of the variations in vertical optic disc and optic cup diameters were attributable to genetic influence.
Subject(s)
Optic Disk/anatomy & histology , Quantitative Trait, Heritable , Twins, Dizygotic/genetics , Twins, Monozygotic/genetics , Adult , Blood Pressure , Body Weights and Measures , Female , Humans , Male , Middle Aged , Models, Genetic , Phenotype , Reference Values , Registries , Young AdultABSTRACT
PURPOSE: To assess the relative influence of genetic and environmental effects on retinal vessel diameters and blood pressure in healthy adults, as well as the possible genetic connection between these two characteristics. METHODS: In 55 monozygotic and 50 dizygotic same-sex healthy twin pairs, aged 20 to 46 years, interpolated diameter estimates for the central retinal artery (CRAE), the central retinal vein (CRVE), and the artery-to-vein diameter ratio (AVR) were assessed by analysis of digital gray-scale fundus photographs of right eyes. RESULTS: The heritability was 70% (95% CI: 54%-80%) for CRAE, 83% (95% CI: 73%-89%) for CRVE, and 61% (95% CI: 44%-73%) for mean arterial blood pressure (MABP). Retinal artery diameter decreased with increasing age and increasing arterial blood pressure. Mean vessel diameters in the population were 165.8 +/- 14.9 microm for CRAE, 246.2 +/- 17.7 microm for CRVE, and 0.67 +/- 0.05 microm for AVR. No significant influence on artery or vein diameters was found for gender, smoking, body mass index (BMI), total cholesterol, fasting blood glucose, or 2-hour oral glucose tolerance test values. CONCLUSIONS: In healthy young adults with normal blood pressure and blood glucose, variations in retinal blood vessel diameters and blood pressure were predominantly attributable to genetic effects. A genetic influence may have a role in individual susceptibility to hypertension and other vascular diseases. The results suggest that retinal vessel diameters and the possible associated variations in risk of vascular disease are primarily genetic characteristics.
Subject(s)
Blood Pressure/genetics , Retinal Artery/anatomy & histology , Retinal Vein/anatomy & histology , Twins, Dizygotic/genetics , Twins, Monozygotic/genetics , Adult , Age Factors , Blood Glucose/metabolism , Body Mass Index , Cholesterol/blood , Cross-Sectional Studies , Environment , Female , Humans , Inheritance Patterns , Male , Middle Aged , Retinal Artery/physiology , Retinal Vein/physiology , Sex FactorsABSTRACT
PURPOSE: To determine whether the presence of one or more cilioretinal arteries, a distinct element of the pattern of fundus vessels, is genetically programmed, influenced by environmental factors, or the result of random mechanisms of vascular development. METHODS: The fundi of 112 pairs of healthy monozygotic and dizygotic twins were examined using digital fundus photography and visual assessment of grayscale fundus photographs and color transparencies to detect the presence of cilioretinal arteries. RESULTS: Cilioretinal arteries were present in 45.1% of participants and 28.8% of eyes. The majority of cilioretinal arteries, 88.2%, were located temporally, and 11.8% were located nasally. Monozygotic twins had higher concordance rates for cilioretinal arteries than dizygotic twins. Tetrachoric correlations and Mantel-Haenszel odds ratios demonstrated statistically significant evidence of a genetic effect underlying the presence of cilioretinal arteries (P < 0.01). Statistical analysis supported the hypothesis that additive genetic factors influenced the presence of cilioretinal arteries with a heritability of 71.4%, the remaining variance being attributable to nonshared or random environmental factors. CONCLUSIONS: The presence or absence of one or more cilioretinal arteries in healthy persons is markedly influenced by genetic factors.
