Reis-B??cklers?? Corneal Dystrophy

Lohse, E; El, Stock; Jc, Jones; Ls, Braude; Rb, O'Grady; Si, Roth

doi:10.1097/00003226-198909000-00008

Cited by 17 publications

(2 citation statements)

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“…However, a detailed study of the original pedigree described by Reis and Bücklers had rod shaped bodies identical to those in GCD (166,167), whereas electron microscopic evaluations of the family originally reported by Thiel and Behnke indicated that these "curly" fibers were a feature of that dystrophy (180). In addition to the "curly" fibers laminin and bullous pemphigoid antigen have been localized in a piebald mosaic distribution through the aberrant subepithelial fibrous tissue suggesting a primarily epithelial disease with the peculiar curly material paralleling the distribution of attachment proteins (181). Thiel-Behnke dystrophy, which is often confused with GCD type III and inappropriately designated Reis-Bücklers dystrophy, has been mapped to chromosome 5 (5q31)(20) and found to be associated with a R555Q mutation in TGFBI (21)(22)(23).…”

Section: Thiel-behnke Corneal Dystrophymentioning

confidence: 92%

“…The literature related to this dystrophy is chaotic mainly because the disorder has often been called Reis-Bücklers dystrophy, especially in the American literature (176,179,181,183). The confusion stems from several sources: (i) the original description was published in German and illustrated with black and white clinical photographs and not accompanied by light or electron microscopic observations on corneal tissue (ii) the clinical features of Thiel-Behnke corneal dystrophy overlap with Reis-Bücklers corneal dystrophy, (iii) families with the ultrastructural hallmarks of Thiel-Behnke dystrophy have been reported in the literature as Reis-Bücklers dystrophy (20,179), (iv) many reported cases of Reis-Bücklers dystrophy and Thiel-Behnke corneal dystrophy have either not been evaluated by transmission electron microscopy or have not been accompanied by acceptable documentation of the diagnostic ultrastructural characteristics.…”

Section: Thiel-behnke Corneal Dystrophymentioning

confidence: 99%

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The molecular genetics of the corneal dystrophies - current status

Klintworth¹

2003

Front Biosci

122

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The pertinent literature on inherited corneal diseases is reviewed in terms of the chromosomal localization and identification of the responsible genes. Disorders affecting the cornea have been mapped to human chromosome 1 (central crystalline corneal dystrophy, familial subepithelial corneal amyloidosis, early onset Fuchs dystrophy, posterior polymorphous corneal dystrophy), chromosome 4 (Bietti marginal crystalline dystrophy), chromosome 5 (lattice dystrophy types 1 and IIIA, granular corneal dystrophy types 1, 2 and 3, Thiel-Behnke corneal dystrophy), chromosome 9 (lattice dystrophy type II), chromosome 10 (Thiel-Behnke corneal dystrophy), chromosome 12 (Meesmann dystrophy), chromosome 16 (macular corneal dystrophy, fish eye disease, LCAT disease, tyrosinemia type II), chromosome 17 (Meesmann dystrophy, Stocker-Holt dystrophy), chromosome 20 (congenital hereditary endothelial corneal dystrophy types I and II, posterior polymorphous corneal dystrophy), chromosome 21 (autosomal dominant keratoconus) and the X chromosome (cornea verticillata, cornea farinata, deep filiform corneal dystrophy, keratosis follicularis spinulosa decalvans, Lisch corneal dystrophy). Mutations in nine genes (ARSC1, CHST6, COL8A2, GLA, GSN, KRT3, KRT12, M1S1and TGFBI [BIGH3]) account for some of the corneal diseases and three of them are associated with amyloid deposition in the cornea (GSN, M1S1, TGFBI) including most of the lattice corneal dystrophies (LCDs) [LCD types I, IA, II, IIIA, IIIB, IV, V, VI and VII] recognized by their lattice pattern of linear opacities. Genetic studies on inherited diseases affecting the cornea have provided insight into some of these disorders at a basic molecular level and it has become recognized that distinct clinicopathologic phenotypes can result from specific mutations in a particular gene, as well as some different mutations in the same gene. A molecular genetic understanding of inherited corneal diseases is leading to a better appreciation of the pathogenesis of these conditions and this knowledge has made it imperative to revise the classification of inherited corneal diseases.

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Section: Thiel-behnke Corneal Dystrophymentioning

confidence: 92%

Section: Thiel-behnke Corneal Dystrophymentioning

confidence: 99%

The molecular genetics of the corneal dystrophies - current status

Klintworth¹

2003

Front Biosci

122

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Subepithelial Mucinous Corneal Dystrophy

Feder

Jay²,

Yue

et al. 1993

Arch Ophthalmol

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TGFBI gene mutations in corneal dystrophies

2006

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The lattice corneal dystrophies (LCD) and granular corneal dystrophies (GCD) are autosomal dominant disorders of the corneal stroma. They are bilateral, progressive conditions characterized by the formation of opacities arising due to the deposition of insoluble material in the corneal stroma leading to visual impairment. The LCDs and GCDs are distinguished from each other and are divided into subtypes on the basis of the clinical appearance of the opacities, clinical features of the disease, and on histopathological staining properties of the deposits. The GCDs and most types of LCD arise from mutations in the transforming growth factor beta-induced (TGFBI) gene on chromosome 5q31. Over 30 mutations causing LCD and GCD have been identified so far in the TGFBI. There are two mutation hotspots corresponding to arginine residues at positions 124 and 555 of the transforming growth factor beta induced protein (TGFBIp) and they are the most frequent sites of mutation in various populations. Mutations at either of these two hotspots result in specific types of LCD or GCD. The majority of identified mutations involve residues in the fourth fasciclin-like domain of TGFBIp.

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Reis-B??cklers?? Corneal Dystrophy

Cited by 17 publications

References 0 publications

The molecular genetics of the corneal dystrophies - current status

The molecular genetics of the corneal dystrophies - current status

Subepithelial Mucinous Corneal Dystrophy

TGFBI gene mutations in corneal dystrophies

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