Oculoleptomeningeal Amyloidosis in a Patient with a TTR Val30Gly Mutation in the Transthyretin Gene

Amyloidosis should be considered in patients who present with vitritis that is unresponsive to corticosteroid therapy. Vitreous biopsy with histopathological analysis is recommended in these cases. Additionally, sequencing of the transthyretin gene should be considered in patients with vitreous amyloidosis to help establish known genetic syndromes and predict both ocular and systemic comorbidities. Although not described previously, elevated IOP may develop in patients with vitreous amyloidosis due to a TTR Val30Gly mutation in the transthyretin gene.