ABSTRACT
Transthyretin (TTR)-related familial amyloidotic polyneuropathy (FAP) is an autosomal dominant inherited disorder characterized by systemic accumulation of polymerized mutated TTR in the peripheral nerves and other organs. In addition to systemic clinical manifestations, various ocular symptoms are commonly recognized in TTR-related FAP. Among these, vitreous opacity and glaucoma are the most serious and result in severe visual disturbances. The chapter analyses sites of TTR synthesis in ocular tissues in addition to the retinal pigment epithelium (RPE). In situ hybridization assays of rabbit eye sections with the antisense probe revealed the presence of hybridization signals for TTR mRNA not only within the RPE cells but also the CPE cells. The signals were distributed uniformly and abundantly within the cytoplasm of all RPE and CPE cells. TTR synthesized by CPE cells may cause amyloid deposition at the pupillary margin and angle chamber, which would result in glaucoma.
