Abstract
Purpose :
Reported rates of ocular involvement in HHT and recommendations regarding ophthalmic surveillance are variable. Our study sought to evaluate the prevalence 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 present the first images of ocular HHT with ultra-widefield ICGA and enhanced-depth imaging (EDI) OCT.
Methods :
Retrospective review of patients with HHT who were seen in the ophthalmology clinic at any of the Mayo Clinic sites (MN, AZ, and FL) between October 22, 2011 to October 22, 2021.
Results :
Of the 71 patients with HHT identified, 7 individuals had appropriate imaging defined as radial or raster spectral-domain OCT scans and/or ICGA. 4 patients were female and 3 were male. 57% of patients, which included all male patients with imaging, had enlarged choroidal vessels detected on OCT (Image 1) and/or ICGA (Image 2). 43% of patients had both choroidal and retinal vascular changes, which consisted of pre-capillary vascular loop, capillary drop out/ischemia with telangiectasia and microaneurysms, and tortuosity of the retinal veins. The mean age for individuals with and without choroidal findings was 67 ± 11 years and 45 ± 24 years, respectively. Patients with choroidal changes included the endoglin gene mutation and displayed symptoms of gastrointestinal arteriovenous malformations (AVM) and facial and mucocutaneous telangiectasias. In contrast, one patient without choroidal changes had the activin A receptor type-like kinase 1 gene mutation and no signs or symptoms of HHT. A similar proportion of those with and without choroidal abnormalities had epistaxis and pulmonary AVMs.
Conclusions :
To our knowledge, this study is the first to illustrate choroidal vascular changes in HHT with ultra-widefield ICGA and EDI OCT. The small number of patients suggests a low incidence of choroidal vascular abnormalities. Those with choroidal vascular abnormalities appear to have corroborating retinal vascular changes as well as a greater number and severity of systemic symptoms than patients without choroidal findings.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.