Literature DB >> 9215058

Ocular manifestations of familial amyloidotic polyneuropathy type I: long-term follow up.

E Ando1, Y Ando, R Okamura, M Uchino, M Ando, A Negi.   

Abstract

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 examinations were performed in 37 FAP type I patients (Met30) from once to 12 times over a period of 1 to 12 years and 7 months.
RESULTS: The following incidences were observed on initial examination of each patient with FAP: ACV in 75.5%, pupillary abnormalities in 43.2%, KCS in 40.5%, glaucoma in 5.4%, and vitreous opacity in 5.4%. All ocular manifestations increased with the progression of FAP, and the incidence of ACV reached 100% during follow up: this may be helpful in the diagnosis of FAP.
CONCLUSION: Since no precise statistical ocular study on FAP with long term follow up has been performed, this report may provide important information to help elucidate the mechanism of the amyloid distributing process in the amyloid targeted organs of FAP and to provide the natural course of ocular manifestations of FAP.

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Mesh:

Year:  1997        PMID: 9215058      PMCID: PMC1722164          DOI: 10.1136/bjo.81.4.295

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN: 0007-1161            Impact factor:   4.638


  15 in total

1.  Ocular manifestations of hereditary primary systemic amyloidosis.

Authors:  H F FALLS; J JACKSON; J H CAREY; J G RUKAVINA; W D BLOCK
Journal:  AMA Arch Ophthalmol       Date:  1955-11

2.  A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy.

Authors:  W C Nichols; R E Gregg; H B Brewer; M D Benson
Journal:  Genomics       Date:  1990-10       Impact factor: 5.736

3.  Diagnostic radioimmunoassay for familial amyloidotic polyneuropathy.

Authors:  M Nakazato; T Kurihara; K Kangawa; H Matsuo
Journal:  Lancet       Date:  1984-12-01       Impact factor: 79.321

4.  Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein.

Authors:  M Haltia; F Prelli; J Ghiso; S Kiuru; H Somer; J Palo; B Frangione
Journal:  Biochem Biophys Res Commun       Date:  1990-03-30       Impact factor: 3.575

5.  Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss).

Authors:  F E Dwulet; M D Benson
Journal:  J Clin Invest       Date:  1986-10       Impact factor: 14.808

6.  Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type).

Authors:  S Tawara; M Nakazato; K Kangawa; H Matsuo; S Araki
Journal:  Biochem Biophys Res Commun       Date:  1983-11-15       Impact factor: 3.575

7.  Familial amyloidotic polyneuropathy: ocular manifestations with clinicopathological observation.

Authors:  R Futa; K Inada; H Nakashima; H Baba; Y Kojima; R Okamura; S Araki
Journal:  Jpn J Ophthalmol       Date:  1984       Impact factor: 2.447

8.  Transthyretin is synthesized in the mammalian eye.

Authors:  R L Martone; J Herbert; A Dwork; E A Schon
Journal:  Biochem Biophys Res Commun       Date:  1988-03-15       Impact factor: 3.575

9.  Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques.

Authors:  H Sasaki; Y Sakaki; H Matsuo; I Goto; Y Kuroiwa; I Sahashi; A Takahashi; T Shinoda; T Isobe; Y Takagi
Journal:  Biochem Biophys Res Commun       Date:  1984-12-14       Impact factor: 3.575

10.  Vitreous amyloidosis associated with homozygosity for the transthyretin methionine-30 gene.

Authors:  O Sandgren; G Holmgren; E Lundgren
Journal:  Arch Ophthalmol       Date:  1990-11
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  28 in total

1.  Vitreous amyloidosis in alanine 71 transthyretin mutation.

Authors:  H J Zambarakji; D G Charteris; W Ayliffe; P J Luthert; F Schon; P N Hawkins
Journal:  Br J Ophthalmol       Date:  2005-06       Impact factor: 4.638

2.  Bilateral optic neuropathy in a patient with familial amyloidotic polyneuropathy.

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3.  Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation.

Authors:  T Liu; B Zhang; X Jin; W Wang; J Lee; J Li; H Yuan; X Cheng
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4.  Lactoferrin Glu561Asp facilitates secondary amyloidosis in the cornea.

Authors:  K Araki-Sasaki; Y Ando; M Nakamura; K Kitagawa; S Ikemizu; T Kawaji; T Yamashita; M Ueda; K Hirano; M Yamada; K Matsumoto; S Kinoshita; H Tanihara
Journal:  Br J Ophthalmol       Date:  2005-06       Impact factor: 4.638

5.  Manifestations of transthyretin-related familial amyloidotic polyneuropathy: long-term follow-up of Japanese patients after liver transplantation.

Authors:  Yuki Ohya; Sadahisa Okamoto; Masayoshi Tasaki; Mitsuharu Ueda; Hirofumi Jono; Konen Obayashi; Kazuhisa Takeda; Hideaki Okajima; Katsuhiro Asonuma; Ryuhei Hara; Hidenobu Tanihara; Yukio Ando; Yukihiro Inomata
Journal:  Surg Today       Date:  2011-08-26       Impact factor: 2.549

6.  Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF.

Authors:  T M O'Hearn; A Fawzi; S He; N A Rao; J I Lim
Journal:  Br J Ophthalmol       Date:  2007-05-23       Impact factor: 4.638

7.  Cerebrospinal fluid and vitreous body exposure to orally administered tafamidis in hereditary ATTRV30M (p.TTRV50M) amyloidosis patients.

Authors:  Cecilia Monteiro; Ana Martins da Silva; Natália Ferreira; Jaleh Mesgarzadeh; Marta Novais; Teresa Coelho; Jeffery W Kelly
Journal:  Amyloid       Date:  2018-07-11       Impact factor: 7.141

Review 8.  Multidisciplinary Approaches for Transthyretin Amyloidosis.

Authors:  Haruki Koike; Takahiro Okumura; Toyoaki Murohara; Masahisa Katsuno
Journal:  Cardiol Ther       Date:  2021-06-04

Review 9.  Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.

Authors:  David Adams; Yukio Ando; João Melo Beirão; Teresa Coelho; Morie A Gertz; Julian D Gillmore; Philip N Hawkins; Isabelle Lousada; Ole B Suhr; Giampaolo Merlini
Journal:  J Neurol       Date:  2020-01-06       Impact factor: 4.849

Review 10.  Guideline of transthyretin-related hereditary amyloidosis for clinicians.

Authors:  Yukio Ando; Teresa Coelho; John L Berk; Márcia Waddington Cruz; Bo-Göran Ericzon; Shu-ichi Ikeda; W David Lewis; Laura Obici; Violaine Planté-Bordeneuve; Claudio Rapezzi; Gerard Said; Fabrizio Salvi
Journal:  Orphanet J Rare Dis       Date:  2013-02-20       Impact factor: 4.123

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