Article
Venous Tortuosity in COL4A2-Associated Gould Syndrome.
Ophthalmic surgery, lasers & imaging retina - 1 Sept 2023
Oh Jin Kyun, Levi Sarah R, de Carvalho Jose Ronaldo Lima, Abdelhakim Aliaa H, Hirano Michio, Maumenee Irene H, Tsang Stephen H
Abstract excerpt
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...
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