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...

Full description

Saved in:
Bibliographic Details
Published inPorto biomedical journal Vol. 6; no. 5; p. e146
Main Authors da Silva, Nisa Filipa Pinho, Beirão, João Nuno Melo
Format Journal Article
LanguageEnglish
Published United States Lippincott Williams & Wilkins 01.09.2021
Subjects
Letter to the Editor
famylial amyloidosis finish-type
corneal lattice amyloidosis
Meretoja syndrome
Hereditary gelsolin amyloidosis
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
The authors declare no conflicts of interest
Informed consent was obtained from the patient
ISSN:2444-8664
2444-8672
DOI:10.1097/j.pbj.0000000000000146