Abstract | PURPOSE: 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:
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Authors | Julia L Hudson, Stephen G Schwartz, Janet L Davis |
Journal | Retinal cases & brief reports
(Retin Cases Brief Rep)
Vol. 17
Issue 4S
Pg. S36-S40
(Jun 01 2023)
ISSN: 1937-1578 [Electronic] United States |
PMID | 35993733
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Female
- Humans
- Aged, 80 and over
- Vitreous Hemorrhage
- Prealbumin
(genetics)
- Retinal Diseases
(diagnosis)
- Eye Diseases
(diagnosis)
- Amyloid Neuropathies, Familial
- Fluorescein Angiography
- Tomography, Optical Coherence
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