Literature DB >> 7950337

Fleck dystrophy of the cornea; a report of cases from three generations of a family.

Y A Akova1, N Unlü, S Duman.   

Abstract

Fleck dystrophy of the cornea is characterized by numerous, tiny, small opacities scattered throughout the entire corneal stroma. The mode of inheritance is autosomal dominant, and this dystrophy is considered to be bilaterally symmetric. This report describes five members from three-generations of the same family with corneal fleck dystrophy. Their clinical features and genetic inheritance pattern are discussed. Visual acuity in all patients was normal and the density of opacities were similar except for two patients with less density. Except for one who presented with mild photophobia all patients were asymptomatic. The inheritance pattern appeared as autosomal dominant with variable expression.

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Year:  1994        PMID: 7950337     DOI: 10.1177/112067219400400209

Source DB:  PubMed          Journal:  Eur J Ophthalmol        ISSN: 1120-6721            Impact factor:   1.922


  5 in total

1.  Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

Authors:  Shouling Li; Leila Tiab; Xiaodong Jiao; Francis L Munier; Leonidas Zografos; Béatrice E Frueh; Yuri Sergeev; Janine Smith; Benjamin Rubin; Mario A Meallet; Richard K Forster; J Fielding Hejtmancik; Daniel F Schorderet
Journal:  Am J Hum Genet       Date:  2005-05-18       Impact factor: 11.025

2.  Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35.

Authors:  Xiaodong Jiao; Francis L Munier; Daniel F Schorderet; Leonidas Zografos; Janine Smith; Benjamin Rubin; J Fielding Hejtmancik
Journal:  Hum Genet       Date:  2003-02-27       Impact factor: 4.132

3.  A novel PIKFYVE mutation in fleck corneal dystrophy.

Authors:  Andreas Kotoulas; Haris Kokotas; Konstantinos Kopsidas; Konstantinos Droutsas; Maria Grigoriadou; Hasret Bajrami; Daniel F Schorderet; Michael B Petersen
Journal:  Mol Vis       Date:  2011-10-25       Impact factor: 2.367

4.  Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.

Authors:  Andrea L Vincent; David M Markie; Betina De Karolyi; Catherine E Wheeldon; Dipika V Patel; Christina N Grupcheva; Charles N J McGhee
Journal:  Mol Vis       Date:  2009-08-26       Impact factor: 2.367

5.  A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.

Authors:  Satoshi Kawasaki; Kenta Yamasaki; Hiroko Nakagawa; Katsuhiko Shinomiya; Mina Nakatsukasa; Yoshihide Nakai; Shigeru Kinoshita
Journal:  Mol Vis       Date:  2012-12-12       Impact factor: 2.367

  5 in total

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