| Abstrakt: |
An 82-year-old woman presented with bilateral segmental retinal arteriolar sheathing, vascular occlusions, and vitreous hemorrhage in one eye. Genetic testing confirmed a Ser77Tyr mutation in transthyretin consistent with hereditary amyloidosis. Diagnosis of cardiac amyloidosis was made by technetium nuclear scan and treatment was started with tafamidis. Purpose: This report describes a case of hereditary transthyretin amyloidosis in an 82-year-old woman who presented with bilateral retinal arteriolar vascular sheathing and vitreous hemorrhage in one eye. Methods: The patient underwent a full history, physical examination, genetic workup, and cardiac imaging to establish the diagnosis. Fundus photographs, optical coherence tomography, fluorescein angiography, and indocyanine green angiography were performed throughout the patient's treatment course. Results: Fundus examination demonstrated segmental sheathing of the retinal arterioles, telangiectasias, and intraretinal hemorrhages in both eyes without neovascularization. Fluorescein angiography revealed delayed filling of the nasal retinal arterioles in the right eye with severe temporal nonperfusion and areas hyperfluorescent segmental sheathing in both eyes. Ocular coherence tomography demonstrated retinal vessels with hyperreflective thickened walls. Cardiac amyloid nuclear scan was consistent with transthyretin-mediated amyloidosis amyloid heart disease, and genetic testing confirmed a heterozygous pathogenic transthyretin mutation: c.290 C>A (p.Ser97Tyr) also known as Ser77Tyr. Conclusion: 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. [ABSTRACT FROM AUTHOR] |
