Abstract
PurposeTo assess the retinal and choroidal vasculature in patients with genetically confirmed Marfan syndrome (MfS).MethodsThis 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.ResultsA 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).ConclusionsThe severity of MfS correlates with the impairment of the retinal and choroidal vasculature.Translational RelevanceOptical 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.
Highlights
The Marfan syndrome (MfS) is a genetic autosomal dominant disorder of connective tissue that involves multiple systems, including the eye.[1]
The severity of MfS correlates with the impairment of the retinal and choroidal vasculature
Our study evaluated macular and optic nerve vessel density (VD) of patients with genetically confirmed MfS using optical coherence tomography angiography (OCTA)
Summary
The Marfan syndrome (MfS) is a genetic autosomal dominant disorder of connective tissue that involves multiple systems, including the eye.[1] Many affected individuals have a mutation in the gene that codes for fibrillin-1 (FBN1), located on chromosome 15q21.1. The diagnosis is usually clinical, requiring fulfilment of certain criteria according to Ghent nosology, including a wide spectrum of systemic features (mainly cardiovascular, skeletal, and ocular), family history, and FBN1 mutation.[2] In the 2010 revision of the Ghent nosology, ectopia lentis resulting from instability and rupture of the ciliary zonule, represents one of the major criteria and the most common ocular sign (>60%). Other ocular features included an axial myopia of more than 3 diopters, microspherophakia, cataract, glaucoma, iris transillumination defects, and a flattened cornea.[3−8]
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