Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His

Abstract Objective: To describe 3 cases of oculoleptomeningeal amyloidosis (OLMA). Design: Descriptive case series. Participants: Three siblings who presented with floaters and decreased visual acuity. Methods: A complete ophthalmologic examination, magnetic resonance imaging, cytological, and genetic studies were carried out in clinical practice. Each sibling was treated by means of pars plana vitrectomy. Vitreous samples stained with Congo Red revealed apple-green birefringence when viewed under polarized light. Results: In each case, visual acuity improved greatly after pars plana vitrectomy. A Tyr69His mutation in the transthyretin (TTR) gene was genetically confirmed in 2 of the siblings. Conclusion: This report adds to the literature regarding OLMA and its association with a Tyr69His mutation in the TTR gene. Despite no proven therapy at this time, symptomatic treatment with pars plana vitrectomy appears to be beneficial.