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

doi:10.1007/s00347-003-0883-2

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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...

Topics

Adult
Aged
Chromosomes, Human, Pair 1
Corneal Dystrophies, Hereditary
Diagnosis, Differential
Female
Genetic Linkage
Genetic Predisposition to Disease
Genetic Testing
Humans
Hyperlipidemia, Familial Combined
Male
Pedigree

Source

Open in PubMed

Identifiers

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

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