Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene.

Abstract

PURPOSE:

To describe the ocular features of 6 Czech and British patients with posterior polymorphous corneal dystrophy (PPCD) caused by mutations in the zinc finger E-box binding homeobox 1 gene (ZEB1).

METHODS:

Case note review of 4 individuals with p.E776fs mutation, one with p.Y719X and one with p.F375fs mutation within the ZEB1 gene.

RESULTS:

Five individuals exhibited endothelial and Descemet membrane changes consistent with the diagnosis of PPCD. We concluded that one 70-year-old female who had a normal endothelium at both slit lamp and non-contact specular microscopy was a case of non-penetrance. The onset of disease was as early as 3 months after birth. One patient had irregular astigmatism with inferior corneal steepening on videokeratography, but without corneal thinning or other signs of keratoconus. Two others had corneal steepening >49D but with regular astigmatism. Three individuals underwent penetrating keratoplasty (PK) in 1 eye, with one patient treated for secondary glaucoma prior to the PK.

CONCLUSIONS:

The phenotype associated with changes in the ZEB1 gene exhibits variable expression and incomplete penetrance and seems to have a low risk for secondary glaucoma or the need for keratoplasty compared to PPCD linked to 20p11.2. There is insufficient data for phenotype correlations with PPCD caused by other genes.

• Authors: Petra Liskova, Martin Filipec, Stanislava Merjava, Katerina Jirsova, Stephen J Tuft
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 31 Issue 4 Pg. 230-4 (Dec 2010) ISSN: 1744-5094 [Electronic] England
• PMID: 21067486 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Homeodomain Proteins
• Transcription Factors
• ZEB1 protein, human
• Zinc Finger E-box-Binding Homeobox 1

Topics

• Adolescent
• Adult
• Age of Onset
• Aged
• Corneal Dystrophies, Hereditary (genetics, pathology, surgery)
• Corneal Topography
• Female
• Homeodomain Proteins (genetics)
• Humans
• Keratoplasty, Penetrating
• Mutation
• Phenotype
• Retrospective Studies
• Transcription Factors (genetics)
• Visual Acuity
• Zinc Finger E-box-Binding Homeobox 1
• Zinc Fingers (genetics)