Ocular manifestations of transthyretin-related familial amyloid polyneuropathy
نویسندگان
چکیده
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 and the clinical characteristics of ocular manifestations of TTR-FAP.
منابع مشابه
Impact of liver transplantation on transthyretin-related ocular amyloidosis in Japanese patients.
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 assessed ocular manifestations, including a...
متن کاملOcular Manifestations and Therapeutic Options in Patients with Familial Amyloid Polyneuropathy: A Systematic Review
PURPOSE This paper aims to review the morphological and functional characteristics of patients affected by familial amyloid polyneuropathy (FAP), with greater focus on type I and its progression after liver transplantation. We also analyse therapeutic options for the ophthalmic manifestations. METHODS The literature from 2002 through 2015 was reviewed, with a total of 45 articles studied, usi...
متن کاملOphtalmologic changes in transthyretin familial amyloid polyneuropathy (ATTR-FAP)
Background Familial amyloid polyneuropathy (FAP) is an inherited disorder with autosomal dominant transmission and multiple phenotypes, characterized by systemic accumulation of amyloid fibrils. The most common type of FAP is related to a mutant transthyretin (TTR). TTR is mainly synthesized in the liver, but few amount of TTR is produced in the eye, namely in retinal pigment epithelium, which ...
متن کامل"Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy.
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, progressive, life-threatening, hereditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin-derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR-FAP is frequently diagnosed late because the disease is difficult to recognize du...
متن کاملAmyloid-related Disorders Transthyretin-associated Familial Amyloid Polyneuropathy— Current and Emerging Therapies
Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP), the most common form of systemic hereditary amyloidosis worldwide, is a late-adult-onset autosomal dominant disease caused by mutations in the TTR gene, with peaks in prevalence in endemic areas. The clinical picture is dominated by a progressive length-dependent polyneuropathy with onset in the feet with loss of temperature an...
متن کامل