Venous Tortuosity in COL4A2-Associated Gould Syndrome

Abstract

Mutations in collagen-encoding genes have been linked to numerous systemic diseases. Specifically, pathologic alterations in COL4A2 have been linked to Gould syndrome, a hereditary angiopathy affecting the brain, kidneys, and eyes. However, the ocular phenotype associated with COL4A2-associated disease has yet to be fully characterized. In this report, we describe a novel variant in COL4A2 identified in a 48-year-old woman and her 15-year-old daughter. Funduscopic examination demonstrated significant venous and arteriolar tortuosity. Genetic testing revealed a novel variant, c.2321G>A:p.(Gly774Glu), in COL4A2. This vascular phenotype is similar to the familial retinal arterial tortuosity seen in COL4A2-associated Gould syndrome with additional venous involvement. [Ophthalmic Surg Lasers Imaging Retina 2023;54:536-539.].