Conjunctival lymphangiectasia as a biomarker of severe systemic disease in Ser77Tyr hereditary transthyretin amyloidosis

AimsTo investigate the relationship between the ophthalmic and systemic phenotypes in patients with hereditary transthyretin amyloidosis with the S77Y mutation (ATTRS77Y).MethodsIn this cross-sectional study, patients with genetically confirmed ATTRS77Y amyloidosis were enrolled. All patients underw...

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Veröffentlicht in:	British journal of ophthalmology 2020-10, Vol.104 (10), p.1363-1367
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Aged, 80 and over Amyloid Neuropathies, Familial - diagnostic imaging Amyloid Neuropathies, Familial - genetics Amyloidosis Biomarkers Cardiomyopathies - diagnostic imaging Cardiomyopathies - genetics Cardiomyopathy Coloring Agents - administration & dosage Conjunctival Diseases - diagnostic imaging Conjunctival Diseases - genetics Cross-Sectional Studies Echocardiography Female Fluorescein Angiography Genetic Association Studies Genotype & phenotype Glaucoma Humans Hypertension Indocyanine Green - administration & dosage Ischemia Life Sciences Lymphangiectasis - diagnostic imaging Lymphangiectasis - genetics Magnetic Resonance Imaging Male Medical imaging Middle Aged Mutation Pacemakers Patients Prealbumin - genetics Proteins Radionuclide Imaging Statistical analysis Technetium Tomography, Optical Coherence Visual Acuity
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