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Severe ocular involvement in hereditary gelsolin amyloidosis
Nisa Filipa Pinho da Silva1, João Nuno Melo Beirão1,2
1Ophthalmology Department, Centro Hospitalar e Universitário do Porto, Porto, Portugal.
Porto Biomedical Journal
|October 15, 2021
Summary
Hereditary gelsolin amyloidosis, a rare systemic amyloidosis, presents with facial palsy, skin laxity, and corneal issues. Genetic testing confirmed a gelsolin gene mutation, highlighting a severe ocular manifestation.
Area of Science:
- Genetics
- Ophthalmology
- Rare Diseases
Background:
- Hereditary gelsolin amyloidosis is a rare systemic amyloidosis.
- It is characterized by a specific triad of symptoms.
Purpose of the Study:
- To report a case of hereditary gelsolin amyloidosis.
- To highlight the severe ocular manifestations in this rare disease.
Main Methods:
- Clinical case presentation.
- Genetic analysis for gelsolin gene mutation detection.
Main Results:
- The patient presented with bilateral facial palsy, cutis laxa, and corneal lattice amyloidosis.
- A mutation in the gelsolin gene on chromosome 9 was identified, confirming the diagnosis.
Conclusions:
- Hereditary gelsolin amyloidosis diagnosis relies on characteristic symptoms and genetic confirmation.
- Severe ocular involvement, though rare, is a significant feature of this condition.
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