Literature DB >> 141212

A clinical and histopathological study of François-Neetens speckled corneal dystrophy.

D H Nicholson, W R Green, H E Cross, K R Kenyon, D Massof.   

Abstract

A 57-year-old black man had François-Neetens speckled dystrophy of the cornea and orbital phycomycosis. Examination of family members confirmed an auto-somal-dominant pattern of inheritance. Light and electron microscopic study of the cornea of a blind eye disclosed that the corneal opacities were represented by swollen, vacuolated keratocytes filled with histochemically demonstrable acid mucopolysaccharide and complex lipids. Thus, this dystrophy may represent a dominantly inherited metabolic disorder confined to the cornea.

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Year:  1977        PMID： 141212     DOI： 10.1016/0002-9394(77)90566-9

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


  11 in total

Review 1.  PIKfyve: Partners, significance, debates and paradoxes.

Authors:  Assia Shisheva
Journal:  Cell Biol Int       Date:  2008-01-25       Impact factor: 3.612

2.  The phosphoinositide kinase PIKfyve/Fab1p regulates terminal lysosome maturation in Caenorhabditis elegans.

Authors:  Anne-Sophie Nicot; Hanna Fares; Bernard Payrastre; Andrew D Chisholm; Michel Labouesse; Jocelyn Laporte
Journal:  Mol Biol Cell       Date:  2006-07       Impact factor: 4.138

3.  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

4.  The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport.

Authors:  Anna C Rutherford; Colin Traer; Thomas Wassmer; Krupa Pattni; Miriam V Bujny; Jeremy G Carlton; Harald Stenmark; Peter J Cullen
Journal:  J Cell Sci       Date:  2006-09-05       Impact factor: 5.285

5.  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

6.  Therapeutic Benefits from Nanoparticles: The Potential Significance of Nanoscience in Retinal Degenerative Diseases.

Authors:  Raju V S Rajala
Journal:  J Mol Biol Ther       Date:  2019

Review 7.  Characteristics of corneal dystrophies: a review from clinical, histological and genetic perspectives.

Authors:  Ze-Nan Lin; Jie Chen; Hong-Ping Cui
Journal:  Int J Ophthalmol       Date:  2016-06-18       Impact factor: 1.779

8.  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

Review 9.  Corneal dystrophies.

Authors:  Gordon K Klintworth
Journal:  Orphanet J Rare Dis       Date:  2009-02-23       Impact factor: 4.123

10.  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
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