Familial amyloid polyneuropathy.

Familial Amyloid Polyneuropathy Type IV (FINNISH) with Rapid Clinical Progression in an Iranian Woman: A Case Report

Familial amyloid polyneuropathy (FAP) type IV (FINNISH) is a rare clinical entity with challenging neuropathy and cosmetic deficits. Amyloidosis can affect peripheral sensory, motor, or autonomic nerves. Nerve lesions are induced by deposits of amyloid fibrils and treatment approaches for neuropathy are challenging. Involvement of cranial nerves and atrophy in facial muscles is a real concern i...

Vitreous Amyloidosis as the Presenting Symptom of Familial Amyloid Polyneuropathy TTR Val30Met in a Portuguese Patient

Familial amyloid polyneuropathy (FAP) is a group of disorders characterized by the extracellular deposition of amyloid substance in various tissues. The peripheral nervous system and the heart are the main target organs, but the eye may also be involved. We report a case of vitreous amyloidosis as the first manifestation of FAP in a 66-year-old Portuguese man without a family history.

Adverse effects of atropine on the sinus node in familial amyloid polyneuropathy.

Ocular manifestations of transthyretin-related familial amyloid polyneuropathy

Background Ocular manifestations of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) mainly include keratoconjunctivitis sicca, secondary glaucoma and vitreous deposits. Because liver transplantation (LT) and symptomatic treatments greatly improve life expectancy of patients, ocular involvement is becoming a more frequent challenge to address. We aimed at studying the prevalence ...

Macular and optic disc edema and retinal vascular leakage in familial amyloid polyneuropathy with a transthyretin Val30Met mutation: a case report

INTRODUCTION Familial amyloid polyneuropathy is a group of autosomal dominant disorders characterized by extracellular amyloid deposition in several target organs. This paper aims to report an unusual manifestation of retinal vascular leakage including optic disc and macular edema in a patient with familial amyloid polyneuropathy. CASE PRESENTATION A 37-year-old Portuguese Caucasian man with ...

Transthyretin gene mutations in British and French patients with amyloid neuropathy.

Five patients, two British and three French, with late onset amyloid neuropathy were found to have mutations of the transthyretin (TTR) gene associated with the Portuguese and German types of familial amyloid polyneuropathy. Familial amyloid polyneuropathy is rare in the United Kingdom and has not previously been defined at a molecular genetic level. None of the patients had a history of affect...