Retinal Arteriovenous Malformations
associated with Hereditary Hemorrhagic Telangiectasia
Retinal Arteriovenous Malformations (AVMs) are rare but significant ocular manifestations of Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome. In these cases, the normal capillary bed is bypassed, creating a direct, high-pressure communication between retinal arteries and veins. While Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic condition, the development of Arteriovenous Malformations (AVMs) is not solely determined by the presence of a germline mutation. Several non-genetic “triggers” can also cause AVMs when core pathways such as BMP9/10-ALK1-SMAD are disrupted. Giving the special vascular structure and postnatal development window, retinal vasculature is a good tool to investigate retinal AVMs related to HHT or other complications.
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