Topic outline

  • Grand Rounds

    This report describes a case of hereditary transthyretin amyloidosis (hATTR) in an elderly patient who presented with bilateral retinal arteriolar vascular sheathing and vitreous hemorrhage in one eye. The patient underwent a full history, physical exam, genetic workup, and cardiac imaging to establish the diagnosis. Fundus photos, optical coherence tomography, and fluorescein (FA) and indocyanine green (ICG) angiography were performed throughout the patient’s treatment course. Fundus exam demonstrated segmental sheathing of the retinal arterioles, telangiectasias, and intraretinal hemorrhages in both eyes without neovascularization. FA revealed delayed filling of the nasal retinal arterioles in the right eye with severe temporal nonperfusion and areas hyperfluorescent segmental sheathing in both eyes. OCT demonstrated retinal vessels with hyperreflective thickened walls. Cardiac amyloid nuclear scan was consistent with ATTR amyloid heart disease and genetic testing confirmed a heterozygous pathogenic transthyretin mutation: c.290 C>A (Ser97Tyr). Amyloidosis should be considered in the differential of vasculitis and vitreous hemorrhage with or without significant vitreous opacities. Ophthalmologists aware of this diagnosis should complete a full review of systems with specific focus on cardiac history and symptoms of peripheral neuropathy when amyloidosis is in the differential.

    Presentation Date: 08/18/2022
    Issue Date: 09/02/2022