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Article

[Schnyder's crystalline corneal dystrophy. Further narrowing of the linkage interval at chromosome 1p34.1-p36?].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft - 1 Nov 2003

Riebeling P, Polz S, Tost F, Weiss J S, Kuivaniemi H, Hoeltzenbein M

Abstract excerpt

BACKGROUND: Schnyder's crystalline corneal dystrophy (SCCD) is a rare autosomal dominant disease and can occur in association with hyperlipoproteinemia. The disease has been mapped to chromosome 1p34.1-p36. CASE REPORT: We report on a 66-year-old woman and her son with Schnyder's crystalline corneal dystrophy. The mother had type IV hyperlipoproteinemia and hypercholesterolemia while her son had...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 14669035
DOI: 10.1007/s00347-003-0883-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Schnyder's crystalline corneal dystrophy. Further narrowing of the linkage interval at chromosome 1p34.1-p36?].PMID 14669035Read ↗

Fine mapping of the Schnyder's crystalline corneal dystrophy locus.Semantic proximity Read ↗

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy.Semantic proximity Read ↗

Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases.Semantic proximity Read ↗

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Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval.Semantic proximity Read ↗

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