Identification of Choroidal Vascular Abnormalities in Patients with Hereditary Hemorrhagic Telangiectasia (HHT)

Abstract

Purpose: To evaluate the frequency of ocular imaging in patients with HHT at a large academic medical institution; characterize the choroidal vascular changes on indocyanine green angiography (ICGA) and optical coherence tomography (OCT); and explore the relationship of these ocular features with HHT genotypes and systemic manifestations. Methods: Retrospective review of patients with HHT who were seen in the Mayo Clinic ophthalmology department between 2011 to 2021. Results: Of the 71 patients with HHT identified, 7 (10%) individuals had qualifying imaging defined as radial or raster spectral-domain OCT scans and/or ICGA. 4 (57%) patients had enlarged choroidal vessels detected on OCT and/or ICGA. 3 (43%) patients had retinal telangiectasias. Patients with choroidal changes (mean age 67 years) had the endoglin gene mutation, gastrointestinal arteriovenous malformations (AVM), and facial and mucocutaneous telangiectasias. In contrast, patients without choroidal changes (mean age 45 years) included the activin A receptor type-like kinase 1 gene mutation. Conclusion: Only a small proportion of patients with HHT undergo ophthalmic imaging at our institution. The presence of choroidal abnormalities is associated with the endoglin gene mutation, older age, corroborating retinal vascular changes, and increased systemic manifestations.