Retinal and Choroidal Vasculature in Patients with Marfan Syndrome

PURPOSE: 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.