Disease
Familial amyloid polyneuropathy type II
Overview

Familial amyloid polyneuropathy type II (Rukavina, Indiana or Swiss type)(transthyretin-84 isoleucine to serine) is another type of tranthyretin amyloidosis that begins later in life and progresses more slowly than familial amyloid polyneuropathy type I [amyloid polyneuropathy type I]. The hands are affected and the carpal tunnel syndrome is a distinguishing feature. Ecchymoses of the eyelids, extraocular muscle weakness, internal ophthalmoplegia, and anisocoria may occur. Extensive deposits of amyloid have been found in blood vessels, ciliary nerves and extraocular muscles, but not in the iris sphincter muscle or cornea. The amyloid in this disorder is a variant of transthyretin with a serine substitution for isoleucine at position 84. FAP II starts later in life and progresses more slowly than FAP I and the hands are affected with the carpal tunnel syndrome being a distinguishing feature. In a postmortem study of an eye from a patient with this variety of amyloidosis extensive deposits of amyloid have been found in blood vessels, ciliary nerves and extraocular muscles, but not in the iris sphincter muscle or cornea.