Monitoring the Patient with Retinal Angiopathy Associated with Hereditary Transthyretin Amyloidosis: Current Perspectives

Abstract

Retinal angiopathy associated with hereditary transthyretin amyloidosis (ATTRv), if untreated, may lead to irreversible vision loss. Our purpose was to systematically review the clinical and imaging features of retinal angiopathy associated with ATTRv and assemble a monitoring approach for these patients. All types of original research studies reporting clinical and imaging findings on retinal angiopathy associated with ATTRv were included. The most common clinical findings were tortuous retinal vessels, microaneurysms, retinal hemorrhages, sheathing of retinal vessels, whitish amyloid deposits along retinal arteries, obliteration of retinal vessels, vitreous hemorrhage, retinal and iris neovascularization. The most relevant imaging findings were hyperautofluorescence of perivessel amyloid deposits; delayed arterial filling, vascular leakage, and retinal ischemia on fluorescein angiography; late hypercyanescence along the choroidal arteries on indocyanine green angiography; perivascular hyperreflective material, needle-shaped deposits on the retinal surface and macular edema on optical coherence tomography (OCT) and attenuated retinal vascular network on OCT-angiography. ATTRv patients should be strictly followed to detect and treat retinal angiopathy, avoiding complications. Both panretinal photocoagulation and intravitreal anti-vascular endothelial growth factor have been used to treat retinal angiopathy in ATTRv. In an individual that presents with retinal angiopathy of unknown etiology, ATTRv should be considered as in the differential diagnosis, even out of the initial core countries. The prognostic value of subclinical findings, namely in OCT-A, is not yet established.

Nerve pathology of microangiopathy and thromboinflammation in hereditary transthyretin amyloidosis

“… 39 Furthermore, retinal angiopathy was observed in patients with ATTRv, including tortuosity and obliteration of retinal vessels, leading to irreversible vision loss. 44 Thus, these observations support the notion that microangiopathy in ATTRv was not confined to peripheral nerves. Ongoing RNA interference or antisense therapies will help to elucidate whether microangiopathy could be reversed and hence nerve degeneration.…”

“…Transient focal neurological deficit was the most common presentation of ATTRv in the central nervous system, occurring in 12–31% of patients 39 . Furthermore, retinal angiopathy was observed in patients with ATTRv, including tortuosity and obliteration of retinal vessels, leading to irreversible vision loss 44 . Thus, these observations support the notion that microangiopathy in ATTRv was not confined to peripheral nerves.…”

OCT angiography indices and the choroidal vascularity index in wild-type transthyretin (TTR) amyloidosis (ATTRwt)

“…Marques et al examined retinal angiopathy in individuals with hereditary transthyretin amyloidosis, indicating that patients with a scalloped iris were linked to a more advanced subclinical retinal angiopathy ( 10 , 11 ).…”