IDENTIFICATION OF CHOROIDAL VASCULAR ABNORMALITIES IN PATIENTS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA

The aim of this study was to evaluate the frequency of ocular imaging in patients with hereditary hemorrhagic telangiectasia (HHT) at a large academic medical institution, characterize the choroidal vascular changes on indocyanine green angiography and optical coherence tomography, and explore the relationship of these ocular features with HHT genotypes and systemic manifestations.

This is a retrospective review of patients with HHT who were seen in the Mayo Clinic ophthalmology department between 2011 and 2021.

Of the 71 patients with HHT identified, 7 patients (10%) had qualifying imaging defined as radial or raster spectral-domain optical coherence tomography scans and/or indocyanine green angiography. Four patients (57%) had enlarged choroidal vessels detected on optical coherence tomography and/or indocyanine green angiography. Three patients (43%) had retinal telangiectasias. Patients with choroidal changes (mean age 67 years) had the endoglin gene mutation, gastrointestinal arteriovenous malformations, and facial and mucocutaneous telangiectasias. By contrast, patients without choroidal changes (mean age 45 years) included the activin A receptor-like kinase 1 gene mutation.

Only a small proportion of patients with HHT undergo ophthalmic imaging at the authors' institution. The presence of choroidal abnormalities is associated with the endoglin gene mutation, older age, corroborating retinal vascular changes, and increased systemic manifestations.