The First Argentinian Family with Familial Amyloidosis of the Finnish Type
Francisco Lucero Saá, Federico Andrés Cremona, Natalia Ximena Mínguez and 2 more
Case Reports in Ophthalmology · 2017
doi:10.1159/000479729 (opens in a new tab)
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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.
Abstract licence: CC BY-NC
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