Severe ocular involvement in hereditary gelsolin amyloidosis

Hereditary gelsolin amyloidosis is a rare subtype of hereditary systemic amyloidosis. An old male presented with the characteristic triad of symptoms, including bilateral facial palsy, cutis laxa, and corneal lattice amyloidosis. The diagnosis was confirmed by the detection of the mutation in gelsol...

Descripción completa

Detalles Bibliográficos
Autores principales: da Silva, Nisa Filipa Pinho, Beirão, João Nuno Melo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8509990/
https://www.ncbi.nlm.nih.gov/pubmed/34651091
http://dx.doi.org/10.1097/j.pbj.0000000000000146
_version_ 1784582469042831360
author da Silva, Nisa Filipa Pinho
Beirão, João Nuno Melo
author_facet da Silva, Nisa Filipa Pinho
Beirão, João Nuno Melo
author_sort da Silva, Nisa Filipa Pinho
collection PubMed
description Hereditary gelsolin amyloidosis is a rare subtype of hereditary systemic amyloidosis. An old male presented with the characteristic triad of symptoms, including bilateral facial palsy, cutis laxa, and corneal lattice amyloidosis. The diagnosis was confirmed by the detection of the mutation in gelsolin gene located on chromosome 9. Although the presenting symptoms were highly suggestive of the disease, reports of severe ocular involvement are scarce in the literature.
format Online
Article
Text
id pubmed-8509990
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Lippincott Williams & Wilkins
record_format MEDLINE/PubMed
spelling pubmed-85099902021-10-13 Severe ocular involvement in hereditary gelsolin amyloidosis da Silva, Nisa Filipa Pinho Beirão, João Nuno Melo Porto Biomed J Letter to the Editor Hereditary gelsolin amyloidosis is a rare subtype of hereditary systemic amyloidosis. An old male presented with the characteristic triad of symptoms, including bilateral facial palsy, cutis laxa, and corneal lattice amyloidosis. The diagnosis was confirmed by the detection of the mutation in gelsolin gene located on chromosome 9. Although the presenting symptoms were highly suggestive of the disease, reports of severe ocular involvement are scarce in the literature. Lippincott Williams & Wilkins 2021-10-11 /pmc/articles/PMC8509990/ /pubmed/34651091 http://dx.doi.org/10.1097/j.pbj.0000000000000146 Text en Copyright © 2021 The Authors. Published by Wolters Kluwer Health, Inc. on behalf of PBJ-Associação Porto Biomedical/Porto Biomedical Society. All rights reserved. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0 (https://creativecommons.org/licenses/by/4.0/)
spellingShingle Letter to the Editor
da Silva, Nisa Filipa Pinho
Beirão, João Nuno Melo
Severe ocular involvement in hereditary gelsolin amyloidosis
title Severe ocular involvement in hereditary gelsolin amyloidosis
title_full Severe ocular involvement in hereditary gelsolin amyloidosis
title_fullStr Severe ocular involvement in hereditary gelsolin amyloidosis
title_full_unstemmed Severe ocular involvement in hereditary gelsolin amyloidosis
title_short Severe ocular involvement in hereditary gelsolin amyloidosis
title_sort severe ocular involvement in hereditary gelsolin amyloidosis
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8509990/
https://www.ncbi.nlm.nih.gov/pubmed/34651091
http://dx.doi.org/10.1097/j.pbj.0000000000000146
work_keys_str_mv AT dasilvanisafilipapinho severeocularinvolvementinhereditarygelsolinamyloidosis
AT beiraojoaonunomelo severeocularinvolvementinhereditarygelsolinamyloidosis

Ejemplares similares