Retinal and Choroidal Vasculature in Patients with Marfan Syndrome

Abstract

To assess the retinal and choroidal vasculature in patients with genetically confirmed Marfan syndrome (MfS). Methods: This prospective, case-control, observational study included 48 eyes of 24 patients with a genetic diagnosis of MfS and compared them with 52 eyes of 26 healthy controls. Best-corrected visual acuity, choroidal and retinal thickness measured by spectral domain-optical coherence tomography, retinal and choroidal vasculature characterized by optical coherence tomography angiography, were collected. A genetic counseling was carried out. A transthoracic echocardiogram was performed to evaluate the dimension of the aortic root, the ascending aorta and the left ventricle function and dimensions. Results: A significant decrease in the superficial and deep retinal capillary plexi vessel density (VD) was evident, such as a decrease in the choriocapillaris plexus VD. In patients with MfS, a negative correlation between left ventricular diameter and the VD of the superficial and deep plexi was observed. Patients with MfS with greater posterior wall and interventricular septum dimensions had lower VD in both plexi (P < 0.05). Moreover, there was a negative correlation between the dimension of the ascending aorta and foveal choriocapillary VD. In patients with MfS, increasing diameter of the ascending aorta was associated with a lower foveal choriocapillary VD (P < 0.05). Conclusions: The severity of MfS correlates with the impairment of the retinal and choroidal vasculature. Translational Relevance: Optical coherence tomography angiography may be a reproducible and noninvasive tool to study retinal blood flow in patients with MfS, with potential diagnostic and prognostic value.

Integrating oculomics with genomics reveals imaging biomarkers for preventive and personalized prediction of arterial aneurysms

“…In a previous case report, an MFS patient with an FBN1 mutation developed an aneurysm and was detected with abnormal retinal vascular morphology in both eyes [ 51 ]. Another study investigated the retinal vasculature alterations in genetically confirmed MFS and found that the severity of MFS was significantly correlated with impairments in the retinal vasculature [ 52 ]. Consistent with these findings, in our study, we observed that (1) the genes with clear biological effects on connective tissue disorders like MFS were also associated with oculomics of RVFs (Supplementary Figure 2 ); (2) the identified oculomics of RVFs had a capability in predicting systemic aneurysm, which was more precise than baseline information.…”

Fibrillin-1 regulates endothelial sprouting during angiogenesis

“…Other fibrillin-1-interacting proteins may be involved in angiogenesis as well. While many pathological aspects in individuals with MFS are known for decades, retinal vascular pathophysiology was only described recently ( 9 , 10 ). These studies show decreased retinal capillary vessel density in patients with MFS, correlating with aortic pathology.…”

“…In addition, defective fibrillin-1-rich ciliary zonules cause ocular lens dislocation ( 8 ). However, individuals with MFS also present a reduction in the density of capillaries in the retina, whose etiology is entirely unknown ( 9 , 10 ).…”

Subclinical Signs of Retinal Involvement in Hereditary Angioedema

“…Poor image quality according to specific criteria including low-quality index (<7), presence of blink artifacts, motion or doubling artifacts caused by poor fixation, and media opacities obscuring the view of the vasculature were considered exclusion criteria. All examinations were performed by the same expert ophthalmologist [30,32,39,40]. All OCT-A measurements were performed at the same time of the day (specifically, 3:00-5:00 p.m.) in both patients and controls [30].…”