Presence of variant transthyretin in aqueous humor of a patient with familial amyloidotic polyneuropathy after liver transplantation

To determine the origin of transthyretin (TTR) in the aqueous humor of patients with familial amyloidotic polyneuropathy (FAP), we measured TTR levels and analyzed the TTR forms in the aqueous humor of three FAP patients (one patient; liver transplanted, and two patients; non-transplanted). The total TTR levels were almost the same as reported previously in non-transplanted patients and slightly increased in a transplanted patient. Analyses with mass spectrometry in the two non-transplanted FAP ATTR V30M patients revealed that both wild type and variant TTR forms were detected in their aqueous humor samples. Moreover, variant TTR forms could be detected in the aqueous humor of the transplanted patient while the liver produced no variant TTR. These results suggest that variant TTR in aqueous humor may be derived from retina where TTR was produced. In conclusion, TTR metabolism may occur in its own ocular cycle and variant TTR produced by the retina may play an important role in amyloid formation in the ocular tissues of FAP patients.