Article
Ophthalmological manifestations of hereditary transthyretin amyloidosis.
Arquivos brasileiros de oftalmologia - 1 Jan 2000
Gondim Francisco de Assis Aquino, Holanda Filha Joana Gurgel, Moraes Filho Manoel Odorico
Abstract excerpt
Transthyretin familial amyloidosis is the most common form of inherited systemic amyloidosis worldwide. The condition develops secondary to more than 100 different point mutations in the transthyretin gene (18q12.1). The mutations lead to abnormal amyloid deposits, mainly in the heart and peripheral nerves. Leptomeningeal and mainly ocular involvement is common. Although there are several different types of...
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