Relationship between amyloid choroidopathy and neurological involvement severity scores in transthyretin amyloidosis

Abstract

Background: Transthyretin amyloidosis (ATTR) is a disorder characterized by amyloid fibril deposits in various tissues, leading to dysfunction of one or multiple organs. Ocular manifestations include keratoconjunctivitis, secondary glaucoma, vitreous deposits, and amyloid choroidopathy. This study aims to describe the angiographic findings in 40 patients with either hereditary (ATTRv) or wild-type (ATTRwt) transthyretin amyloidosis, analyze the 3-year progression of choroidal involvement, and correlate these findings with neurological and cardiac involvement.

Patients and methods: We retrospectively analyzed 79 eyes of 40 patients who underwent a comprehensive ophthalmological examination, including fluorescein angiography and indocyanine green angiography (ICGA), between 2018 and 2021. A neurological assessment (SFN-SIQ questionnaire, PND, FAP, and NIS scores) and cardiology evaluation (NYHA, LVEF) were systematically performed.

Results: A total of 25 men and 15 women with a mean age of 65.8±16.8 years were included. Seventy-five percent had ATTRv, mostly with the Val30Met (p.Val50Met) mutation (35%). In 61.1% of cases, hyperfluorescent lesions were observed on ICGA. Only Val30Met (p.Val50Met) patients exhibited firework-like patterns on ICGA. There was no progression of choroidal involvement over 3 years. Ninety-five percent of patients showed neurological involvement. Diffuse choroidal involvement is associated with higher SFN-SIQ questionnaire value (P=0.02), FAP score (P=0.017) and NIS score (P=0.046). In contrast, no relationship was found between cardiac involvement and choroidal involvement.

Conclusion: ICG may be used as a marker for neural components of the choroid in this disease. A prospective longitudinal study is needed to evaluate the progression of hyperfluorescent lesions on ICGA in choroidal neuropathy under treatment over time in ATTR.

Keywords: Amyloid cardiopathy; Amyloid choroidopathy; Amyloid neuropathy; Amylose à transthyrétine; Cardiopathie amyloide; Choroidopathie amyloide; Indocyanine green; Neuropathie amyloide; Transthyretin amyloidosis; Vert d’indocyanine.