Crystalline Corneal Dystrophy

Gillespie, Frederick D.; Covelli, Benito

doi:10.1016/0002-9394(63)93136-2

Cited by 13 publications

(2 citation statements)

References 2 publications

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“…The predominant phospholipid is sphingomyelin (313). Most cases lack an apparent systemic disorder (314), but hypercholesterolemia is common (315)(316)(317)(318)(319)(320), and so is an arcus lipoides (305,307,309,311,321), xanthelasma {905,786,907}. familial hypercholesterolemia (322,323), familial dysbetalipoproteinemia (322) or hypertriglyceridemia (324) and other manifestations of hypercholesterolemia (322) have been reported.…”

Section: Central Crystalline Dystrophy (Schnyder Dystrophy)mentioning

confidence: 99%

The molecular genetics of the corneal dystrophies - current status

Klintworth¹

2003

Front Biosci

121

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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: Central Crystalline Dystrophy (Schnyder Dystrophy)mentioning

confidence: 99%

The molecular genetics of the corneal dystrophies - current status

Klintworth¹

2003

Front Biosci

121

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“…Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disease that results in deposits of cholesterol and phospholipids in the corneal stroma [1][2][3]. Mutations in the UBIAD1 gene (genetic locus 1p36) were shown to be responsible for the disease [4,5].…”

Section: Introductionmentioning

confidence: 99%

Multimodal Imaging Features of Schnyder Corneal Dystrophy

Ghazal¹,

Georgeon²,

Grieve

et al. 2020

Journal of Ophthalmology

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Objective. To describe the multimodal imaging of Schnyder corneal dystrophy. Methods. Seven eyes of seven patients (5 female and 2 male patients) aged 52 to 92 years were included in this prospective observational study. Diagnosis of SCD was confirmed by histology after keratoplasty. In vivo multimodal imaging consisted of spectral domain-optical coherence tomography with cross sections, en face scans, corneal pachymetry, and epithelial mapping, and in vivo confocal microscopy was recorded. Ex vivo full-field optical coherence tomography scans of two corneal buttons were analyzed. The seven corneal buttons obtained during penetrating or deep anterior lamellar keratoplasty were processed for light microscopy. Results. Slit-lamp examination showed central stromal opacities, arcus lipoides, and midperipheral haze. Corneal crystals were found in 2 out of 7 eyes. SD-OCT cross sections and en face scans showed diffuse hyperreflectivity of the anterior, mid, and posterior stroma with a maximum in the anterior stroma, hyporeflective stromal striae, and epithelial hyperreflectivity. Central corneal thickness ranged from 507 to 635 μm. IVCM revealed hyperreflective deposits in the epithelium and throughout the stroma, thin subepithelial nerves, and needle-shaped and rectangular crystals. Keratocyte nuclei were rare or undetectable. FF-OCT scans confirmed the presence of small round and needle-shaped hyperreflective deposits in the epithelium and stroma. Histology revealed vacuolization of the basal epithelial cells and empty interlamellar stromal vacuoles. Conclusion. High-resolution multimodal imaging demonstrates the characteristic features of SCD which involve both the corneal epithelium and stroma, and it provides diagnosis confirmation even in eyes with no visible corneal crystals at slit-lamp examination.

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Cornea and Sclera

Donn¹

1965

Archives of Ophthalmology

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Crystalline Corneal Dystrophy

Cited by 13 publications

References 2 publications

The molecular genetics of the corneal dystrophies - current status

The molecular genetics of the corneal dystrophies - current status

Multimodal Imaging Features of Schnyder Corneal Dystrophy

Cornea and Sclera

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