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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...

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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:
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
Descripción
Sumario: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.