Literature DB >> 1082286

Fleck (Mouchetée) dystrophy of the cornea.

J T Patten, R A Hyndiuk, D D Donaldson, S J Herman, H B Ostler.   

Abstract

Five families, four Caucasian and one Negro (14 patients) with fleck (speckled or Mouchetée) dystrophy of the cornea are presented. In each, the typical presentation of fine scattered fleck-like dystrophic lesions was found throughout all layers of the central and peripheral corneal stroma but not affecting the epithelium, Bowman's membrane, Descemet's membrane or the endothelium. Clear stroma was noted between each lesion. Visual acuity in all patients was normal or only slightly affected. Except for an occasional patient with minor photophobia, almost all patients found affected with this dystrophy were asymptomatic in regard to their corneal condition. There was no decrease in corneal sensitivity noted in any patient. All families displayed evidence of an autosomal dominant hereditary pattern and progression of the dystrophy is slow and benign in character. With the exception of one family with atopic disease, no systemic organic illness was noted by histroy in all of the families. Laboratory screening of 2 of the 5 families showed no abnormalities of any systemic metabolic disorders. The characteristic clinical picture and favorable prognosis of this condition enables one to easily differentiate this condition from other known parenchymatous corneal dystrophies. The incidence of this condition is probably much more common than the reported cases in the literature might indicate.

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Mesh:

Year:  1976        PMID: 1082286

Source DB:  PubMed          Journal:  Ann Ophthalmol        ISSN: 0003-4886


  6 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

Review 3.  The IC3D classification of the corneal dystrophies.

Authors:  Jayne S Weiss; H U Møller; Walter Lisch; Shigeru Kinoshita; Anthony J Aldave; Michael W Belin; Tero Kivelä; Massimo Busin; Francis L Munier; Berthold Seitz; John Sutphin; Cecilie Bredrup; Mark J Mannis; Christopher J Rapuano; Gabriel Van Rij; Eung Kweon Kim; Gordon K Klintworth
Journal:  Cornea       Date:  2008-12       Impact factor: 2.651

4.  A Case of Bilateral Descemet's Membrane and Subepithelial Opacity: In vivo Laser Confocal Microscopic Study.

Authors:  Yukiko Hatta; Hideaki Yokogawa; Akira Kobayashi; Makoto Torisaki; Kazuhisa Sugiyama
Journal:  Case Rep Ophthalmol       Date:  2013-03-16

5.  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

6.  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

  6 in total

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