amyloidosis, transthyretin-relatedA hereditary form of generalised amyloidosis (OMIM:105210) caused by transthyretin (amyloid) deposition, leading to amyloid polyneuropathy, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis, and leptomeningeal amyloidosis with amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial region. Some patients also develop vitreous amyloid deposition, leading to visual impairment (oculoleptomeningeal amyloidosis).
Seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humour.
Defects of TTR, which encodes transthyretin, cause various forms of transthyretin-related amyloidosis.
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