Literature DB >> 19832730

Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome).

Christian Carrwik1, Ulf Stenevi.   

Abstract

PURPOSE: This paper reviews current knowledge about the pathogenesis, clinical manifestations and treatment of lattice corneal dystrophy, gelsolin type (LCD2, Meretoja's syndrome).
METHODS: Material is derived from literature searches, a case study of a Finnish patient living in Sweden, and interviews in Helsinki with Professor Ahti Tarkkanen and Dr Sari Kiuru-Enari, both of whom have extensive first-hand experience in treating patients with the disease.
RESULTS: The disease is now reported from several countries in Europe, as well as Japan, the USA and Iran. Treatment is symptomatic and is based on eye lubrication combined with rigorous monitoring of intraocular pressure to reduce corneal haze and postpone the need for keratoplasty. When systemic symptoms occur, the ophthalmologist should consult other specialists.
CONCLUSIONS: The disease is probably under-reported and is almost certainly to be found in more countries, including Sweden. Every ophthalmologist should be vigilant and consider this diagnosis when discovering a corneal lattice dystrophy, especially because the disease is an inherited, lifelong chronic condition with systemic symptoms.

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Year:  2009        PMID: 19832730     DOI: 10.1111/j.1755-3768.2009.01686.x

Source DB:  PubMed          Journal:  Acta Ophthalmol        ISSN: 1755-375X            Impact factor:   3.761


  12 in total

1.  Chaperone nanobodies protect gelsolin against MT1-MMP degradation and alleviate amyloid burden in the gelsolin amyloidosis mouse model.

Authors:  Wouter Van Overbeke; Adriaan Verhelle; Inge Everaert; Olivier Zwaenepoel; Joël Vandekerckhove; Claude Cuvelier; Wim Derave; Jan Gettemans
Journal:  Mol Ther       Date:  2014-07-15       Impact factor: 11.454

Review 2.  Gelsolin amyloidosis: genetics, biochemistry, pathology and possible strategies for therapeutic intervention.

Authors:  James P Solomon; Lesley J Page; William E Balch; Jeffery W Kelly
Journal:  Crit Rev Biochem Mol Biol       Date:  2012-02-24       Impact factor: 8.250

3.  Transthyretin amyloid neuropathy has earlier neural involvement but better prognosis than primary amyloid counterpart: an answer to the paradox?

Authors:  Adam J Loavenbruck; Wolfgang Singer; Michelle L Mauermann; Paola Sandroni; P James B Dyck; Morie Gertz; Christopher J Klein; Phillip A Low
Journal:  Ann Neurol       Date:  2016-07-25       Impact factor: 10.422

Review 4.  Systemic diseases and the cornea.

Authors:  Ruchi Shah; Cynthia Amador; Kati Tormanen; Sean Ghiam; Mehrnoosh Saghizadeh; Vaithi Arumugaswami; Ashok Kumar; Andrei A Kramerov; Alexander V Ljubimov
Journal:  Exp Eye Res       Date:  2021-01-21       Impact factor: 3.467

5.  Recurrent Amyloid Material in Grafts Used in Patients with Lattice Corneal Dystrophy 2 (Meretoja's Syndrome).

Authors:  Valentín Huerva; Jordi Soldevila; Xavier Matias-Guiu
Journal:  Med Hypothesis Discov Innov Ophthalmol       Date:  2014

6.  Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type.

Authors:  I Casal; S Monteiro; C Abreu; M Neves; L Oliveira; M Beirão
Journal:  Case Rep Med       Date:  2017-01-31

7.  Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation.

Authors:  Jesus Cabral-Macias; Leopoldo A Garcia-Montaño; Mario Pérezpeña-Díazconti; Marisa-Cruz Aguilar; Guillermo Garcia; Carlos I Vencedor-Meraz; Enrique O Graue-Hernandez; Oscar F Chacón-Camacho; Juan C Zenteno
Journal:  Mol Vis       Date:  2020-05-02       Impact factor: 2.367

8.  Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys.

Authors:  Maja Potrč; Marija Volk; Matteo de Rosa; Jože Pižem; Nataša Teran; Helena Jaklič; Aleš Maver; Brigita Drnovšek-Olup; Michela Bollati; Katarina Vogelnik; Alojzija Hočevar; Ana Gornik; Vladimir Pfeifer; Borut Peterlin; Marko Hawlina; Ana Fakin
Journal:  Int J Mol Sci       Date:  2021-01-22       Impact factor: 5.923

9.  Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study.

Authors:  Eeva-Kaisa Schmidt; Tuuli Mustonen; Sari Kiuru-Enari; Tero T Kivelä; Sari Atula
Journal:  Orphanet J Rare Dis       Date:  2020-01-17       Impact factor: 4.123

10.  Analyses Mutations in GSN, CST3, TTR, and ITM2B Genes in Chinese Patients With Alzheimer's Disease.

Authors:  Yaling Jiang; Bin Jiao; Xinxin Liao; Xuewen Xiao; Xixi Liu; Lu Shen
Journal:  Front Aging Neurosci       Date:  2020-09-10       Impact factor: 5.750

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