Article
Conjunctival lymphangiectasia as a biomarker of severe systemic disease in Ser77Tyr hereditary transthyretin amyloidosis.
The British journal of ophthalmology - 1 Oct 2020
Bunod Roxane, Adams David, Cauquil Cécile, Francou Bruno, Labeyrie Céline, Bourenane Halima, Adam Clovis, Algalarrondo Vincent, Slama Michel, Darce-Bello Martha, Barreau Emmanuel, Labetoulle Marc, Rousseau Antoine
Abstract excerpt
AIMS: To investigate the relationship between the ophthalmic and systemic phenotypes in patients with hereditary transthyretin amyloidosis with the S77Y mutation (ATTRS77Y). METHODS: In this cross-sectional study, patients with genetically confirmed ATTRS77Y amyloidosis were enrolled. All patients underwent complete neurological examination, including staging with the Neuropathy Impairment Score (NIS),...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
