Fig 1.
Flowchart of patient enrollment.
There is an overlap between the group of patients included in the study and the group of subjects with records of poor quality, because, in the case of 9 patients, only one eye could be evaluated (e.g., due to nystagmus, difficulty with pupil dilation). Cardiovascular risk groups were constructed based on severity from “A” to “C”. Subjects of group “A” were the least affected, while individuals of groups “B” and “C” had already undergone aortic surgery. Taking into account the number of individuals in each group and the need for aortic surgery, subjects of groups “B” and “C” were also analyzed together. DN: dominant negative, HI: haploinsufficient, MFS: Marfan syndrome.
Table 1.
Baseline characteristics of examined patients.
Fig 2.
Retinal thickness in different regions by 2 variation types.
The mean retinal thickness of the whole retina (A), fovea (B), parafovea (C) and perifovea (D) of patients with haploinsufficient variants was significantly thinner than that of dominant negative subjects. A Total thickness of retina (µm). B Thickness of fovea (µm). C Thickness of parafovea (µm). D Thickness of perifovea (µm). DN: dominant negative, HI: haploinsufficient, *: p < 0.05, **: p < 0.01.
Fig 3.
Retinal thickness in different regions by 3 variant types.
Retina of patients with haploinsufficient variants was significantly thinner in the entire retina (A), in the fovea (B), parafovea (C), and perifovea (D), compared to DN (-Cys) subjects. This difference was also observed in the total retina (A) and parafovea (C) compared to DN (non-Cys) patients. A Total thickness of retina (µm). B Thickness of fovea (µm). C Thickness of parafovea (µm). D Thickness of perifovea (µm). DN (non-Cys): dominant negative mutation not eliminating a cysteine amino acid, DN (-Cys): dominant negative mutation eliminating a cysteine amino acid, HI: haploinsufficient. Bonferroni post hoc test was applied → *: p < 0.05, **: p < 0.01. (In the analysis of total thickness of retina, the Bonferroni post hoc test showed no significance, therefore the LSD post hoc test was used → *: p < 0.05).
Fig 4.
Retinal vessel density by 2 cardiovascular risk groups.
Total (A), parafoveal (B), perifoveal superficial vessel density (C), total (D) and parafoveal (E) deep vessel density were significantly higher in group “A” compared to patients who underwent aortic surgery [group (B + C)]. *: p < 0.05, **: p < 0.01. A Total superficial vessel density (%). B Superficial vessel density of parafovea (%). C Superficial vessel density of perifovea (%). D Total deep vessel density (%). E Deep vessel density of parafovea (%).
Fig 5.
Retinal vessel density by 3 cardiovascular risk groups.
Total (A), parafoveal (B), perifoveal superficial vessel density (C) were significantly higher in patients in group A compared to the most severely affected cardiovascular group [group C]. Parafoveal superficial vessel density was also significantly higher in group A compared to group B. Bonferroni post hoc test or pairwise comparison was applied → *: p < 0.05, **: p < 0.01. A Total superficial vessel density (%). B Superficial vessel density of parafovea (%). C Superficial vessel density of perifovea (%).