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Updated: Feb 22, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
The First Argentinian Family with Familial Amyloidosis of the Finnish Type
Francisco Lucero Saá1, Federico Andrés Cremona1, Natalia Ximena Mínguez1
1Department of Ophthalmology, Hospital de Clínicas José de San Martin, Universidad de Buenos Aires (UBA), Buenos Aires, Argentina.
Abstract:
Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in Finland in 1969. It is a disease produced by a single mutation in the gene coding for gelsolin, which generates an abnormal protein that cumulates in tissues and leads to various signs. Obtaining an early diagnosis can be challenging, as the first manifestations of the disease are ophthalmological and may only be seen with slit-lamp biomicroscopy. We present the first 3 cases diagnosed in Argentina, confirmed by genetic molecular testing.
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