Literature DB >> 139144

Fleck corneal dystrophy.

J J Purcell, J H Krachmer, T A Weingeist.   

Abstract

Fourteen members of four families with fleck systrophy of the corneal stroma were examined and studied. Corneal and lens changes were noted in all patients. Corneal sensation was normal. Corneal biopsies were performed on two patients and a corneal button of a patient with fleck dystrophy and keratoconus was studied. Light and electron microscopy and histochemical studies showed this dystrophy to consist of abnormal keratocytes with variable numbers of membrane-limited intracytoplasmic vacuoles containing a granular to fibrogranular material that stains positively for mucopolysaccharide. This appears to be the first reported incidence of a dominantly inherited disorder of mucopolysaccharides affecting the eyes.

Entities:  

Mesh:

Substances:

Year:  1977        PMID: 139144     DOI: 10.1001/archopht.1977.04450030082009

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  6 in total

Review 1.  The cornea--structure and macromolecules in health and disease. A review.

Authors:  G K Klintworth
Journal:  Am J Pathol       Date:  1977-12       Impact factor: 4.307

2.  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

Review 3.  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

Review 4.  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

5.  Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

Authors:  Jessica A Gee; Ricardo F Frausto; Duk-Won D Chung; Chulaluck Tangmonkongvoragul; Derek J Le; Cynthia Wang; Jonathan Han; Anthony J Aldave
Journal:  Mol Vis       Date:  2015-09-17       Impact factor: 2.367

Review 6.  Corneal dystrophies.

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

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.