Optical Coherence Tomography Angiography of Familial Retinal Arteriolar Tortuosity

Familial retinal arteriolar tortuosity (fRAT) is characterized by tortuosity of second- and third-order retinal arterioles.1 fRAT is usually described as an isolated retinal disease with autosomal dominant inheritance. However, fRAT has also been reported in association with cerebral small vessel disease (SVD) in patients with mutations in the COL4A1 gene.2,3 The clinical spectrum of COL4A1 mutations has been further extended and includes hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC syndrome).4 Mutations in the COL4A2 gene have also been described in patients

Source: Ophthalmic Surgery, Lasers and Imaging : the Official Journal of the International Society for Imaging in the Eye - June 21, 2018 Category: Opthalmology Authors: Audrey Giocanti-Auregan, MD, PhD Source Type: research