Franceschetti Hereditary Recurrent Corneal Erosion

Lisch, Walter; Bron, Anthony J.; Munier, Francis L.; Schorderet, Daniel F.; Tiab, Leila; Lange, Clemens; Saikia, Parykshit; Reinhard, Thomas; Weiss, Jayne S.; Gundlach, Enken; Pleyer, Uwe; Lisch, Christina; Auw-Haedrich, Claudia

doi:10.1016/j.ajo.2011.12.011

Cited by 26 publications

(19 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…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. 13 In this family, candidate corneal genes and loci at that time were excluded by linkage analysis.…”

Section: Epithelial Recurrent Erosion Dystrophysupporting

confidence: 60%

“…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 has recently been revisited, with further family members recruited and phenotyped . 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%

See 1 more Smart Citation

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

Vincent

2013

Clinical Exper Ophthalmology

View full text Add to dashboard Cite

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.

show abstract

Section: Epithelial Recurrent Erosion Dystrophysupporting

confidence: 60%

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

View full text Add to dashboard Cite

show abstract

“…Affected individuals get diffuse corneal opacities mostly not earlier than the fourth to fifth decades. 5 The authors do not accurately describe the long-term confusion between RBCD and TBCD in the literature. In 1938, Bücklers 6 described a second form of granular corneal dystrophy, disclosing corneal rings and stars.…”

Section: Individual Phenotypic Variances In a Family With Thiel-behnkmentioning

confidence: 98%

Individual Phenotypic Variances in a Family With Thiel–Behnke Corneal Dystrophy

Lisch

Kivelä

2013

Cornea

Self Cite

View full text Add to dashboard Cite

“…The genetic basis of ERED has not been established, although mutations in genes previously associated with CD have been excluded in some instances. In one dominant family described as Franceschetti CD, mutations in TGFBI and TACSTD2 were excluded [Lisch et al., ]. In two large additional families with a similar ERED phenotype, termed dystrophia Smolandiensis [Hammar et al., ] and dystrophia Helsinglandica [Hammar et al., ], disease‐causing mutations in COL8A2 , TGFBI , GSN , KRT3 , or KRT12 were excluded.…”

Section: Introductionmentioning

confidence: 99%

Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)

Jönsson

Byström

Davidson³

et al. 2015

Human Mutation

View full text Add to dashboard Cite

Corneal dystrophies are a clinically and genetically heterogeneous group of inherited disorders that bilaterally affect corneal transparency. They are defined according to the corneal layer affected and by their genetic cause. In this study, we identified a dominantly inherited epithelial recurrent erosion dystrophy (ERED)-like disease that is common in northern Sweden. Whole-exome sequencing resulted in the identification of a novel mutation, c.2816C>T, p.T939I, in the COL17A1 gene, which encodes collagen type XVII alpha 1. The variant segregated with disease in a genealogically expanded pedigree dating back 200 years. We also investigated a unique COL17A1 synonymous variant, c.3156C>T, identified in a previously reported unrelated dominant ERED-like family linked to a locus on chromosome 10q23-q24 encompassing COL17A1. We show that this variant introduces a cryptic donor site resulting in aberrant pre-mRNA splicing and is highly likely to be pathogenic. Bi-allelic COL17A1 mutations have previously been associated with a recessive skin disorder, junctional epidermolysis bullosa, with recurrent corneal erosions being reported in some cases. Our findings implicate presumed gain-of-function COL17A1 mutations causing dominantly inherited ERED and improve understanding of the underlying pathology.

show abstract

Franceschetti Hereditary Recurrent Corneal Erosion

Cited by 26 publications

References 13 publications

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

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

Individual Phenotypic Variances in a Family With Thiel–Behnke Corneal Dystrophy

Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)

Contact Info

Product

Resources

About