III. Hereditäre rezidivierende Erosion der Hornhaut

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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“…Franceschetti 1928;Rollet 1933). The first report of a familial occurrence was presented by Pameijer (1935) in the Netherlands.…”

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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“…In IC3D, this entity is classified as epithelial recurrent erosion dystrophy, with the majority being category 4. The original pedigree described by Franceschetti in 1928 62 has recently been revisited, with further family members recruited and phenotyped. 63 This family shows some similarities to an autosomal dominant pedigree we previously described, with an anterior membrane dystrophy, and recurrent corneal erosions starting from the age of 5 until about the age of 20.…”

Section: Epithelial Recurrent Erosion Dystrophymentioning

confidence: 99%

Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review

Vincent

2013

Clinical Exper Ophthalmology

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Many of the corneal dystrophies have now been genetically characterized, and a system was established in 2008 by The International Committee for Classification of Corneal Dystrophies (IC3D) in an attempt to standardize the nomenclature. IC3D provided a classification system whereby all dystrophies can be categorized on the basis of the underlying genetic knowledge. Since that time, further work has established even more phenotypic and allelic heterogeneity than anticipated, particular for Fuchs endothelial corneal dystrophy and posterior polymorphous dystrophy. Using genome-wide association studies, a number of genes are now implicated both in normal corneal quantitative traits, such as central corneal thickness, as well as in disease. There is also a trend towards functional characterization of the genetic variants involved to elucidate the pathophysiology of these entities. This review article will provide an overview of the knowledge to date, with an emphasis on findings since the IC3D classification was published in 2008.

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“…idiopathic, previous trauma or secondary to corneal dystrophies (Bron & Burgess 1981). Reports of inherited corneal recurrent erosions, however, are rare (Franceschetti 1928;Wales 1955;Remler 1959;Legrand 1963;Shindo 1968;Brown & Bron 1976;Bron & Burgess 1981; Dystrophia Helsinglandicacorneal morphology, topography and sensitivity in a hereditary corneal disease with recurrent erosive episodes 2008,2009). Even so, inherited conditions are still being discovered that have previously not been described or classified.…”

Section: Introductionmentioning

confidence: 99%

Dystrophia Helsinglandica – corneal morphology, topography and sensitivity in a hereditary corneal disease with recurrent erosive episodes

Neira

Hammar²,

Holopainen

et al. 2010

Acta Ophthalmologica

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ABSTRACT.Purpose: The aim of this study was to describe the morphology, corneal topography and sensitivity in individuals with Dystrophia Helsinglandica. This autosomal dominant corneal disease is characterized by recurrent corneal erosive episodes and progressive subepithelial fibrosis not significantly affecting visual acuity. Methods: The corneas of nine affected and nine unaffected individuals were examined using slit-lamp biomicroscopy, in vivo confocal microscopy (IVCM) and videokeratography. Corneal mechanical sensitivity was also measured using a non-contact esthesiometer. Results: Slit-lamp biomicroscopy revealed that the affected individuals represented different stages of corneal changes, from a nearly normal cornea to subepithelial fibrosis of the central cornea. Corneal changes in affected individuals did not significantly decrease the best spectacle-corrected visual acuity. In vivo confocal microscopy detected morphological changes in the epithelium and stroma. Subepithelial opacity formation including altered keratocytes could be found in the anterior stroma in all affected eyes. With the exception of two eyes (one affected and one unaffected), all videokeratographies showed irregular astigmatism. Corneal sensitivity was significantly lower in affected individuals (p = 0.01). Age and corneal sensitivity showed no correlation. Conclusion: The main morphological findings in affected individuals were discrete and progressive subepithelial fibrosis, in the in vivo confocal microscope corresponding to optically dense extracellular matrix and activated keratocytes. Subbasal nerve morphology was changed in the affected family members who also showed a decreased corneal sensitivity. The findings are per se not specific to the disease. The changes probably reflect a healing response to erosive events on the corneal surface influenced by the genotype.

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III. Hereditäre rezidivierende Erosion der Hornhaut

Cited by 16 publications

References 0 publications

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

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

Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review

Dystrophia Helsinglandica – corneal morphology, topography and sensitivity in a hereditary corneal disease with recurrent erosive episodes

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