Misfolded Proteins in the Eye – Vitreous Amyloidosis

PURPOSE: The aim of this study was to describe a case of vitreous amyloidosis as a rare aetiology of vitreous opacities and to show diagnostic value of vitreous biopsy in the diagnostic process as well as show a potiential new non-invasive diagnostic for vitreous amyloidosis. METHODS: Retrospective case report with presentation of medical record data, clinical imaging, and pathological work-up. RESULTS: A 82-year-old man underwent diagnostic vitrectomy due to dense vitreous opacities in the right eye. While visual acuity did not improve much due to an underlying advanced fibrotic age related macular degeneration, pathology confirmed amyloid material in the vitreous. The patient was diagnosed with hereditary amyloid transthyretin amyloidosis (ATTRv) and offered a transthyretin stabilising therapy (tafamidis, vindaqel®). DISCUSSION: While vitreous opacities are a common usually benign phenomenon, it is important to recognise atypical presentation. Diagnostic work-up may include diagnostic vitrectomy, which can aid in diagnosing relevant underlying systemic disease such as ATTRv amyloidosis. While pathologic work-up of vitreous material is the current gold standard, there may be novel non-invasive imaging techniques to aid in diagnosis of vitreous amyloidosis.