ArticleCase reports in ophthalmology
The First Argentinian Family with Familial Amyloidosis of the Finnish Type.
Article in Case reports in ophthalmology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Familial amyloidosis of the Finnish type: clinical and neurophysiological features of two index cases.BMJ case reports · 2022Article
- Hearing problems in patients with hereditary gelsolin amyloidosis.Orphanet journal of rare diseases · 2021Article
- The role of gelsolin domain 3 in familial amyloidosis (Finnish type).Proceedings of the National Academy of Sciences of the United States of America · 2019Article
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Authors and funding
5 authors at 3 institutions in 1 country.
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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.
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