title: Ocular Manifestations and Therapeutic Options in Patients with Familial Amyloid Polyneuropathy: A Systematic Review.
abstract: OBJECTIVE
  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, using the key terms related to amyloidosis and its therapeutic approaches. Information was collated, evaluated, critically assessed, and then summarised in its present form. PATHOPHYSIOLOGY AND TREATMENT: FAP results from mutation of the transthyretin gene, with Val30Met being the most frequent substitution. The symptoms are those typical of a sensorimotor autonomic neuropathy and can be halted with liver transplantation. Nowadays there are new medical therapies that delay the progression of the systemic neuropathy. However, there are still no options to avoid ocular disease.
  
  
  CONCLUSIONS
  The main ocular manifestations in patients with FAP type I are amyloid deposition in the vitreous, dry eye, and secondary glaucoma. Despite liver transplantation, eye synthesis of amyloid persists and is associated with progressive ocular manifestations, which require continued ophthalmologic follow-up. New therapeutic strategies are therefore needed, particularly to target the ocular synthesis of the abnormal protein.
authors.affiliation: Centro Hospitalar e Universitário de Coimbra, Avenida Bissaya Barreto-Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal.
authors.forename: A C
authors.initials: AC
authors.lastname: Martins
authors.affiliation: Centro Hospitalar e Universitário de Coimbra, Avenida Bissaya Barreto-Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal ; Faculty of Medicine, University of Coimbra, Rua Larga, 3004-504 Coimbra, Portugal.
authors.forename: A M
authors.initials: AM
authors.lastname: Rosa
authors.affiliation: Centro Hospitalar e Universitário de Coimbra, Avenida Bissaya Barreto-Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal ; Faculty of Medicine, University of Coimbra, Rua Larga, 3004-504 Coimbra, Portugal.
authors.forename: E
authors.initials: E
authors.lastname: Costa
authors.affiliation: Centro Hospitalar e Universitário de Coimbra, Avenida Bissaya Barreto-Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal ; Faculty of Medicine, University of Coimbra, Rua Larga, 3004-504 Coimbra, Portugal.
authors.forename: C
authors.initials: C
authors.lastname: Tavares
authors.affiliation: Centro Hospitalar e Universitário de Coimbra, Avenida Bissaya Barreto-Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal ; Faculty of Medicine, University of Coimbra, Rua Larga, 3004-504 Coimbra, Portugal.
authors.forename: M J
authors.initials: MJ
authors.lastname: Quadrado
authors.affiliation: Centro Hospitalar e Universitário de Coimbra, Avenida Bissaya Barreto-Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal ; Faculty of Medicine, University of Coimbra, Rua Larga, 3004-504 Coimbra, Portugal.
authors.forename: J N
authors.initials: JN
authors.lastname: Murta
mesh_terms: D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D005260:Female; D006801:Humans; D007498:Iris / Q000473:pathology; D008297:Male; D008875:Middle Aged