Retinal Vessel Geometry and Retinal Abnormalities in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

PURPOSE: To investigate the retinal vessel geometry and retinal abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

METHODS

The data of 35 patients with CADASIL and 35 normal controls were retrospectively included in the study. Fundus photographs of all participants were obtained; signs of retinal abnormality were evaluated; an automated retinal vessel geometry evaluation program based on a deep learning model was used; and retinal vessel geometry parameters, including diameter, ratio, density, branching geometry, asymmetry, and tortuosity characteristics, were measured.

RESULTS

Common signs of retinal abnormality in CADASIL patients included general arterial narrowing (n = 21), arteriovenous nicking (n = 10), and drusen (n = 8). In addition, one CADASIL patient experienced hemorrhage, and one patient had collateral vessels in their fundus. Compared with normal controls, CADASIL patients had a lower central retinal artery equivalent (P = 0.020), lower arteriovenous ratio (P < 0.001), lower number of first branches of the arterioles (P = 0.041), lower arteriolar junctional exponent deviation (P = 0.002), higher venular branching angle (P < 0.001), higher arteriolar branching coefficient (P = 0.001), and higher venular branching coefficient (P = 0.023).

CONCLUSIONS

The retinal vessel geometry is altered in CADASIL patients, indicating retinal vessel involvement and vascular remodeling during the pathological process of the disease. Arterial narrowing, arteriovenous nicking, and drusen are common, suggesting the presence of arteriosclerosis and possible premature aging in the fundus of these patients.

TRANSLATIONAL RELEVANCE: Our findings contribute to a deeper understanding of how CADASIL affects the retina.