Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyHumansMaleAdultAmyloid NeuropathiesFamilial
Primary oculoleptomeningeal transthyretin amyloidosis with subarachnoid hemorrhages, visual loss, and heart and skin amyloid deposits.
Alessandro Francia, Daniele Mattavelli, Massimiliano Braga, Federico Zicarelli, Alessandro Invernizzi, Gianluca Marucci, Silvia Fenu, Davide Pareyson, Leonardo Pantoni
Published: 202610.1007/s10072-025-08624-7
Abstract
OBJECTIVE: Primary oculoleptomeningeal amyloidosis (OLMA) is a rare hereditary transthyretin (TTR) amyloidosis (ATTRv) associated with specific TTR variants. p.Arg54Gly is characterized by an ocular phenotype with vitreous opacities and chronic open-…
Preview only. Read the full abstract at the source