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BACKGROUND Type I (transthyretin Met30) familial amyloid polyneuropathy (FAP TTR Met30) occurs in 2 endemic foci in Japan. We have also reported late-onset Japanese cases unrelated to an endemic focus and showing distinctive clinicopathologic features. OBJECTIVE To compare clinical and geographic features of FAP TTR Met30 between patients with onset(More)
It is known that the severity of ocular symptoms does not always correlate with the systemic symptoms in patients with familial amyloidotic polyneuropathy (FAP ATTR V30M). The ocular tissues may have their own TTR metabolic system. The aim of this study is to clarify the distribution of amyloid deposition in the ocular tissues and to investigate the(More)
Ocular symptoms of transthyretin (TTR)-related familial amyloidotic polyneuropathy (FAP) suggest that ciliary pigment epithelium (CPE) may synthesize TTR and its TTR may lead to amyloid formation in addition to TTR from vessels and retinal pigment epithelium (RPE). To clarify sites of TTR synthesis in ocular tissues, we performed in situ hybridization and(More)
BACKGROUND Liver transplantation has served as a treatment for patients with familial amyloidotic polyneuropathy (FAP) because variant transthyretin (TTR), the pathogenic protein of FAP, is predominantly produced by the liver. However, the effect on amyloid formation of TTR that is synthesised by the retina and the choroid plexus remains to be elucidated in(More)
AIMS To obtain precise information on ocular manifestations of familial amyloidotic polyneuropathy (FAP) type I, the incidence of five main ocular manifestations--abnormal conjunctival vessels (ACV), keratoconjunctivitis sicca (KCS), pupillary abnormality, vitreous opacity, and glaucoma, were compared through long term follow up. METHODS Ocular(More)
To obtain precise information on ophthalmological manifestations in patients with familial amyloidotic polyneuropathy (FAP), we performed ophthalmological and histopathological studies on 18 FAP patients and 6 asymptomatic individuals with a mutant transthyretin (TTR) gene. The incidence of vascular abnormalities of the conjunctiva and retina was(More)
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(More)
OBJECTIVE To evaluate the long-term impact of liver transplantation on ocular manifestations of familial amyloid polyneuropathy (FAP) in Japanese patients. METHODS Medical records were retrospectively reviewed in a long-term follow-up study. Of 52 patients with FAP amyloidogenic transthyretin Val30Met, 22 patients underwent liver transplantation. We(More)
PURPOSE To report the prevalence of vitreous opacities and the outcome of vitreous surgery in patients with familial amyloidotic polyneuropathy (FAP). DESIGN Observational case series. METHODS In 37 patients with FAP and the ATTR Val30 Met mutation, vitreous opacities were present in 14 eyes of 9 patients and vitrectomy combined with phacoemulsification(More)
We describe a case of vitreous amyloidosis without systemic symptoms in familial amyloidotic polyneuropathy (FAP) associated with Val30Met transthyretin mutation. A healthy 74-year-old woman noticed left blurred vision and floaters in 1992. Severe vitreous opacities were identified in the left eye. The patient displayed no systemic symptoms, and Congo red(More)