Die Möglichkeiten der therapeutischen Photokeratektomie mit dem Excimerlaser bei der Behandlung der Schnyder kristallinen Hornhautdystrophie

Meier, U; Anastasi, C.; Failla, F.; Simona, F

doi:10.1055/s-2008-1034920

Cited by 6 publications

(1 citation statement)

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“…Eventually however, reduced visual acuity and glare often mandate intervention. While phototherapeutic keratectomy (removal of superficial corneal layers via excimer laser ablation) can provide temporary relief in selected cases[5], the definitive treatment is surgical replacement of the central cornea (penetrating keratoplasty) with cadaveric donor tissue. SCCD can recur in the corneal graft postoperatively[4].…”

Section: Introductionmentioning

confidence: 99%

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

et al. 2007

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Schnyder crystalline corneal dystrophy (SCCD, MIM 121800) is a rare autosomal dominant disease characterized by progressive opacification of the cornea resulting from the local accumulation of lipids, and associated in some cases with systemic dyslipidemia. Although previous studies of the genetics of SCCD have localized the defective gene to a 1.58 Mbp interval on chromosome 1p, exhaustive sequencing of positional candidate genes has thus far failed to reveal causal mutations. We have ascertained a large multigenerational family in Nova Scotia affected with SCCD in which we have confirmed linkage to the same general area of chromosome 1. Intensive fine mapping in our family revealed a 1.3 Mbp candidate interval overlapping that previously reported. Sequencing of genes in our interval led to the identification of five putative causal mutations in gene UBIAD1, in our family as well as in four other small families of various geographic origins. UBIAD1 encodes a potential prenyltransferase, and is reported to interact physically with apolipoprotein E. UBIAD1 may play a direct role in intracellular cholesterol biochemistry, or may prenylate other proteins regulating cholesterol transport and storage.

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Section: Introductionmentioning

confidence: 99%

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

et al. 2007

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Schnydersche kristalline Hornhautdystrophie

Riebeling

Polz²,

Tost³

et al. 2003

Der Ophthalmologe

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The haplotype analysis suggests that either recombination has occurred, which would allow the candidate interval to be narrowed down, or alternatively, the SCCD in the reported family is not linked to chromosome 1, which would be a first indication of genetic heterogeneity in this disease. To reduce the risk of cardiovascular disease, hyperlipidemia should always be excluded in patients with Schnyder's crystalline corneal dystrophy.

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LASIK and surface ablation in corneal dystrophies

Woreta

Davis

Bower

2015

Survey of Ophthalmology

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Die Möglichkeiten der therapeutischen Photokeratektomie mit dem Excimerlaser bei der Behandlung der Schnyder kristallinen Hornhautdystrophie

Abstract: Excimer laser photokeratectomy is a valuable tool in treating the Schnyder cristalline form of corneal dystrophy.

Cited by 6 publications

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Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Schnydersche kristalline Hornhautdystrophie

LASIK and surface ablation in corneal dystrophies

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