ArticleCornea2010
Unusual presentation of presumed posterior polymorphous dystrophy associated with iris heterochromia, band keratopathy, and keratoconus.
Article in Cornea, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Identification of pathogenic variants in six Chinese families with keratoconus of autosomal dominant inheritance: pathogenicity analysis and variable phenotype.International ophthalmology · 2025Article
- Article
- Posterior Polymorphous Corneal Dystrophy in a Patient with a NovelInternational journal of molecular sciences · 2022Article
- ZEB1 insufficiency causes corneal endothelial cell state transition and altered cellular processing.PloS one · 2019Article
- Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.Ophthalmology and therapy · 2018Review
- A unique case of keratoconus with Cogan-Reese syndrome and secondary glaucoma.Indian journal of ophthalmology · 2017Article
- Genetics in Keratoconus - What is New?The open ophthalmology journal · 2017Article
- Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function.Molecular vision · 2017Article
- Article
- The genetic and environmental factors for keratoconus.BioMed research international · 2015Review
- Two percent ethylenediaminetetraacetic acid chelation treatment for band-shaped keratopathy, without blunt scratching after removal of the corneal epithelium.Clinical ophthalmology (Auckland, N.Z.) · 2015Article
- Genetics of keratoconus: where do we stand?Journal of ophthalmology · 2014Review
- Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening.JAMA ophthalmology · 2013Article
- Screening the visual system homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant.Molecular vision · 2013Article
- The Genetics of Keratoconus: A Review.Reproductive system & sexual disorders : current research · 2012Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo report an unusual presentation of posterior polymorphous corneal dystrophy (PPCD) associated with band keratopathy, iridocorneal adhesions, heterochromia, keratoconus, and confocal microscopic findings suggestive of iridocorneal endothelial syndrome.
methodsConfocal microscopy, corneal topography, electroretinography, and genetic analysis were performed in the proband and his siblings.
resultsA 23-year-old man presented with decreased vision in both eyes over 9 months. Examination revealed bilateral alterations in corneal endothelial mosaic with corneal edema and beaten metal appearance in the right eye and cystoid endothelial opacities in the left eye. Marked heterochromia, band keratopathy, and broad peripheral anterior synechiae were present in both eyes. Topographic features of keratoconus were noted. Electroretinography did not detect abnormal retinal function, as has been described with PPCD associated with VSX1 mutations. Diagnosis of PPCD was postulated on the basis of the examination of 3 of proband's brothers by confocal microscopy. Genetic analysis of 3 known PPCD genes, VSX1, COL8A2, and TCF8, did not detect any mutations.
conclusionsIn severe cases, PPCD can resemble iridocorneal endothelial syndromes in both clinical appearance and imaging studies (confocal microscopy). There was a strong genetic phenotypic penetrance in the family, which was essential in the diagnostic decision making. A yet undetermined genotype is contributing to this unusual PPCD phenotype.
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Registered trials
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