Severe ocular involvement in hereditary gelsolin amyloidosis

Nisa Filipa Pinho da Silva; João Nuno Melo Beirão

doi:10.1097/j.pbj.0000000000000146

Severe ocular involvement in hereditary gelsolin amyloidosis

Porto Biomed J. 2021 Oct 11;6(5):e146. doi: 10.1097/j.pbj.0000000000000146. eCollection 2021 Sep-Oct.

Authors

Nisa Filipa Pinho da Silva¹, João Nuno Melo Beirão^{1

2}

Affiliations

¹ Ophthalmology Department, Centro Hospitalar e Universitário do Porto, Porto, Portugal.
² Instituto de Ciências Biomédicas Abel Salazar, University of Porto.

Abstract

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.

Keywords: Hereditary gelsolin amyloidosis; Meretoja syndrome; corneal lattice amyloidosis; famylial amyloidosis finish-type.