Elderly onset vitreous opacities as the initial manifestation in hereditary transthyretin (ATTR Val30Met) carries

ABSTRACT

Familial amyloid polyneuropathy (FAP) is a systemic disorder transmitted as an autosomal dominant trait and is characterized by deposits of protein fibrils in various organs leading to physiologic dysfunction. In cases with FAP in Japanese endemic foci, their signs and symptoms often develop before the age of 40 years. We report on two elderly patients (an 80-year-old woman and an 83-year-old man) with progressive vitreous opacities (VOs) as the initial manifestation of hereditary transthyretin (ATTR Val30Met) carries, who had no evidence of systemic involvement or family history of amyloidosis and lived in non-endemic areas. Therapeutic vitrectomy with extensive vitreous removal combined with cataract surgery was performed. Clinicians should consider the possibility of hereditary transthyretin carries in cases presenting with VOs of undetermined etiology to avoid misdiagnosis.

KEYWORDS:

• Familial amyloid polyneuropathy
• hereditary transthyretin carries
• Val30Met mutation
• vitreous opacities

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.