Novel Mutations in the Helix Termination Motif of Keratin 3 and Keratin 12 in 2 Taiwanese Families with Meesmann Corneal Dystrophy

Chen, Ying‐Ting; Tseng, S. C. G.; Chao, Sheau‐Chiou

doi:10.1097/01.ico.0000159732.29930.26

Cited by 20 publications

(10 citation statements)

References 15 publications

(29 reference statements)

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“…Ile 426Val I426V 12 c.1277T>G p. Ile 426Ser I426S 5 c.1285T>G* p.Tyr429Asp Tyr429Asp 9 c.1286A>G p.Tyr429Cys Y429C 2 * Reported as c.4046T>G ( GenBank accession number AF137286). …”

Section: The Ic3d Classification (C = Category)mentioning

confidence: 99%

The IC3D Classification of the Corneal Dystrophies

Weiss

Møller

Lisch

et al. 2008

Cornea

245

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Background The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification. Abnormalities in different genes can cause a single phenotype, whereas different defects in a single gene can cause different phenotypes. Some disorders termed corneal dystrophies do not appear to have a genetic basis. Purpose The purpose of this study was to develop a new classification system for corneal dystrophies, integrating up-to-date information on phenotypic description, pathologic examination, and genetic analysis. Methods The International Committee for Classification of Corneal Dystrophies (IC3D) was created to devise a current and accurate nomenclature. Results This anatomic classification continues to organize dystrophies according to the level chiefly affected. Each dystrophy has a template summarizing genetic, clinical, and pathologic information. A category number from 1 through 4 is assigned, reflecting the level of evidence supporting the existence of a given dystrophy. The most defined dystrophies belong to category 1 (a well-defined corneal dystrophy in which a gene has been mapped and identified and specific mutations are known) and the least defined belong to category 4 (a suspected dystrophy where the clinical and genetic evidence is not yet convincing). The nomenclature may be updated over time as new information regarding the dystrophies becomes available. Conclusions The IC3D Classification of Corneal Dystrophies is a new classification system that incorporates many aspects of the traditional definitions of corneal dystrophies with new genetic, clinical, and pathologic information. Standardized templates provide key information that includes a level of evidence for there being a corneal dystrophy. The system is user-friendly and upgradeable and can be retrieved on the website www.corneasociety.org/ic3d.

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“…Ile 426Val I426V 12 c.1277T>G p. Ile 426Ser I426S 5 c.1285T>G* p.Tyr429Asp Tyr429Asp 9 c.1286A>G p.Tyr429Cys Y429C 2 * Reported as c.4046T>G ( GenBank accession number AF137286). …”

Section: The Ic3d Classification (C = Category)mentioning

confidence: 99%

The IC3D Classification of the Corneal Dystrophies

Weiss

Møller

Lisch

et al. 2008

Cornea

245

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“…Burns (1968) reported five families and two isolated cases (totalling 17 cases) in the USA. In the more recent literature the clinical description is often sparse, with emphasis placed on the genetic or histopathologic aspects of the disease (Snyder 1963;Kornzweig 1964;Kuwabara & Ciccarelli 1964;Alkemade & van Balen 1966;Yanoff et al 1977;Badr et al 1998;Coleman et al 1999;Corden et al 2000;Irvine et al 2002;Yoon et al 2004;Chen et al 2005;Nichini et al 2005). …”

Section: Historymentioning

confidence: 99%

Phenotypic variability in Meesmann's dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family

Ehlers

Hjortdal

Nielsen

et al. 2008

Acta Ophthalmologica

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ABSTRACT.Purpose: To describe the phenotypic variability in Meesmann's microcystic dystrophy of the corneal epithelium based on a review of the literature and the presentation of a Danish family. Methods: We carried out a clinical examination of the family and genetic sequencing of DNA. Results: Subjective symptoms often include blurred vision and ocular irritation. Typical cases may be entirely free of complaints. Intermittent pain episodes, such as occur in recurrent erosion syndrome, are not the rule. Genetic sequencing indicated a familial relationship with the originally described Meesmann family. Clinical variability was similar. Approximately 85% of cases showed microcysts in the entire epithelium. The remaining 15% demonstrated variants with microcysts in the upper or lower part of the cornea, or in the central or peripheral cornea, as well as subepithelial opacities. Conclusions: Meesmann's dystrophy occurs worldwide. The largest family described is the original German one, now supplemented with a Danish branch. Despite the presence of an identical genetic defect, the clinical phenotype varies. This suggests that non-KRT12-related mechanisms are responsible for the variation.

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“…Because 14 Descriptions of nonfamilial superficial corneal dystrophies, appearing clinically as MCD, have been reported in the past, but hereditary patterns were not described. 1,15,[23][24][25][26][27] We report a bilateral association of MCD with EBMD and PPMD in a patient without a positive family history, which, to the best of our knowledge, has not been described previously.…”

Section: Discussionmentioning

confidence: 95%

“…2,9,10 MCD has been associated with heterozygous mutations in the cornea-specific keratin K12 or K3 genes, which map to the established keratin type I and type II clusters on chromosomes 17q12 and 12q13, respectively. [2][3][4][5][6][9][10][11][12][13][14] In the literature, only 16 mutations have been reported thus far: 14 on K12 and 2 on K3. 3,14 MCD manifests in early childhood and typically affects both eyes.…”

mentioning

confidence: 95%