Article
Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families.
Ophthalmic paediatrics and genetics - 1 Mar 1993
Salvi F, Salvi G, Volpe R, Mencucci R, Plasmati R, Michelucci R, Gobbi P, Santangelo M, Ferlini A, Forabosco A
Abstract excerpt
Two unrelated Italian families affected by hereditary amyloidosis are described. Molecular genetic characterization demonstrated different mutations of the transthyretin gene. In all patients belonging to the TTR Ala 49 family the vitreous body, the heart and the peripheral nervous system were massively infiltrated by amyloid matter. In the TTR Pro 36 family vitreous opacities were the long-standing isolated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.