Literature DB >> 302697

The clinical spectrum of posterior polymorphous dystrophy.

G W Cibis, J A Krachmer, C D Phelps, T A Weingeist.   

Abstract

We examined 61 affected members of eight families with an inherited corneal dystrophy. The corneal abnormalities varied greatly from one member of a family to another. Some patients had only a few isolated endothelial vesicles, while others in the same family had severe secondary stromal and epithelial edema. In some patients edema was present at birth or in early childhood; in others it developed later in life. The wide variation of corneal abnormalities suggests the possibility that several conditions previously described as separate disease entities, such as grouped vesicles, Schnyder's posterior herpes, posterior polymorphous dystrophy, and congenital hereditary endothelial dystrophy, are part of the clinical spectrum of expression of a single familial corneal dystrophy. Some affected family members also had ocular hypertension or open-angle glaucoma. Broad iridocorneal adhesions were present in some of the patients with glaucoma and in others with normal intraocular pressures. Other ocular abnormalities present in a few patients include pupillary ectropion, "glass membranes" on the anterior iris surface, and bands in Descemet's membrane. The transmission in most of the families was autosomal dominant. In two families it appeared to be autosomal recessive.

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Mesh:

Year:  1977        PMID: 302697     DOI: 10.1001/archopht.1977.04450090051002

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


  30 in total

1.  A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10.

Authors:  Satoko Shimizu; Charles Krafchak; Nobuo Fuse; Michael P Epstein; Miriam T Schteingart; Alan Sugar; Maya Eibschitz-Tsimhoni; Catherine A Downs; Frank Rozsa; Edward H Trager; David M Reed; Michael Boehnke; Sayoko E Moroi; Julia E Richards
Journal:  Am J Med Genet A       Date:  2004-11-01       Impact factor: 2.802

Review 2.  Recent progress in histochemistry and cell biology.

Authors:  Stefan Hübner; Athina Efthymiadis
Journal:  Histochem Cell Biol       Date:  2012-02-25       Impact factor: 4.304

3.  Zeb1 mutant mice as a model of posterior corneal dystrophy.

Authors:  Yongqing Liu; Xiaoyan Peng; Jinlian Tan; Douglas S Darling; Henry J Kaplan; Douglas C Dean
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-05       Impact factor: 4.799

4.  [New international classification of corneal dystrophies (CD)].

Authors:  W Lisch; B Seitz
Journal:  Ophthalmologe       Date:  2011-09       Impact factor: 1.059

5.  Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening.

Authors:  Anthony J Aldave; Lydia B Ann; Ricardo F Frausto; Catherine K Nguyen; Fei Yu; Irving M Raber
Journal:  JAMA Ophthalmol       Date:  2013-12       Impact factor: 7.389

6.  Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

Authors:  Charles M Krafchak; Hemant Pawar; Sayoko E Moroi; Alan Sugar; Paul R Lichter; David A Mackey; Shahzad Mian; Theresa Nairus; Victor Elner; Miriam T Schteingart; Catherine A Downs; Theresa Guckian Kijek; Jenae M Johnson; Edward H Trager; Frank W Rozsa; Md Nawajes Ali Mandal; Michael P Epstein; Douglas Vollrath; Radha Ayyagari; Michael Boehnke; Julia E Richards
Journal:  Am J Hum Genet       Date:  2005-09-14       Impact factor: 11.025

7.  Confocal microscopy in cornea guttata and Fuchs' endothelial dystrophy.

Authors:  A G Chiou; S C Kaufman; R W Beuerman; T Ohta; H Soliman; H E Kaufman
Journal:  Br J Ophthalmol       Date:  1999-02       Impact factor: 4.638

8.  Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct.

Authors:  M Callaghan; C K Hand; S M Kennedy; J S FitzSimon; L M Collum; N A Parfrey
Journal:  Br J Ophthalmol       Date:  1999-01       Impact factor: 4.638

9.  The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene.

Authors:  Anna L Shen; Kathleen A O'Leary; Richard R Dubielzig; Norman Drinkwater; Christopher J Murphy; Charles B Kasper; Christopher A Bradfield
Journal:  PLoS One       Date:  2010-08-16       Impact factor: 3.240

Review 10.  Corneal dystrophies.

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

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