Lattice Type of Hereditary Corneal Degeneration

Stansbury, Frederick C.

doi:10.1001/archopht.1948.00900030194010

Cited by 20 publications

(3 citation statements)

References 17 publications

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“…LCD type I usually starts in both eyes towards the end of the first decade of life, but occasionally it begins in middle life and rarely by 2 years of age (112). Delicate interdigitating branching filamentous opacities form a network with the cornea (113,114).…”

Section: Lattice Corneal Dystrophies 3111 Lattice Corneal Dystrophy T...mentioning

confidence: 99%

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: Lattice Corneal Dystrophies 3111 Lattice Corneal Dystrophy T...mentioning

confidence: 99%

The molecular genetics of the corneal dystrophies - current status

Klintworth¹

2003

Front Biosci

122

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“…Although many such cases have been published in Europe and the United States [1,10,15,18] since the initial description by Bieber, Haab and Dimmer [3], only a few families suffering from this dystrophy have been reported in Japan [5,6,7,8,16]. We encountered a family with this disease (Fig.…”

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confidence: 95%

Specular microscopic findings of lattice corneal dystrophy

et al. 1987

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A Japanese family with 4 members suffering from lattice dystrophy of the cornea is reported. Their central corneas were affected leaving the peripheral zone clear. Corneal lesions were found in the superficial stroma of younger cases and in the deeper stroma of older cases. The proband was a 75 year-old woman who underwent a penetrating keratoplasty. Her corneal specimens revealed amyloid deposits stained with Congo red in the stroma. In specular microscopy, the probands central cornea had a crateriform appearance which had not been reported in the literatures. A few fine short branching lines and crateriform lesions were shown in the superficial stroma of the proband's daughter and only crisscrossing lines could be seen in her granddaughter's cornea.

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“…It usually becomes evident towards the end of the first decade of life, though the characteristic changes have been observed earlier, at 2 years (Stansbury, 1948), or later, in the third or fourth decades (Ramsay, 1957). Usually at about the 20th year the lesions become macroscopically obvious and classically occur bilaterally.…”

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confidence: 99%