Sur une nouvelle forme de dystrophie cornéenne (dystrophia filiformis profunda corneae) associée à un kératocône

Maeder, G; Danis, P

doi:10.1159/000300475

Cited by 19 publications

(5 citation statements)

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“…The opacities are of variable shape and may resemble commas, circles, lines, threads (filiform), flour (farina) or dots. Terms that have been applied to these disorders include deep filiform dystrophy and cornea farinata (271). Deep filiform dystrophy consists of small multiple threadlike, gray opacities in the pre-Descemet's membrane area that affect the entire width of the cornea except for the perilimbal region (271).…”

Section: Corneal Dystrophies Due To Mutations In the Sts Gene 371 Dee...mentioning

confidence: 99%

“…Terms that have been applied to these disorders include deep filiform dystrophy and cornea farinata (271). Deep filiform dystrophy consists of small multiple threadlike, gray opacities in the pre-Descemet's membrane area that affect the entire width of the cornea except for the perilimbal region (271). It has been noted in association with keratoconus (271) and X-linked ichthyosis (steroid sulfatase deficiency, OMIM #308100) [http://www3.ncbi.nlm.nih.gov/htbin-post/Omin/dispmim?308100] (272).…”

Section: Corneal Dystrophies Due To Mutations In the Sts Gene 371 Dee...mentioning

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: Corneal Dystrophies Due To Mutations In the Sts Gene 371 Dee...mentioning

confidence: 99%

Section: Corneal Dystrophies Due To Mutations In the Sts Gene 371 Dee...mentioning

confidence: 99%

The molecular genetics of the corneal dystrophies - current status

Klintworth¹

2003

Front Biosci

122

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“…This would place it in the same category as cornea farinata (Vogt, 1930), deep filiform dystrophy (Maeder and Danis, 1947), deep punctiform dystrophy (Franceschetti and Maeder, 1954), and the group of pre-Descemet's changes described by Grayson and Wilbrandt (I967). The opacities in cornea farinata are dust-like and can be observed biomicroscopically only by retroillumination.…”

Section: Discussionmentioning

confidence: 98%

Polymorphic stromal dystrophy.

Thomsitt¹,

Bron²

1975

British Journal of Ophthalmology

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“…2 Maeder and Danis (1947) followed by describing deep filiform dystrophy, which was associated with keratoconus. 3 Franceschetti then found that deep filiform dystrophy was not always associated with keratoconus. 4 Deep punctiform dystrophy was then associated with ichthyosis, as was another case of PDCD.…”

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confidence: 98%