Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct

• Published in: British journal of ophthalmology Vol. 83; no. 1; pp. 115 - 119
• Main Authors: Callaghan, Máire, Hand, Collette K, Kennedy, Susan M, FitzSimon, J Susan, Collum, Louis M T, Parfrey, Nollaig A
• Format: Journal Article
• Language: English
• Published: BMA House, Tavistock Square, London, WC1H 9JR BMJ Publishing Group Ltd 01.01.1999; BMJ; BMJ Publishing Group LTD
• Subjects: Biological and medical sciences; Chromosome Mapping; Congenital diseases; congenital hereditary endothelial dystrophy; Corneal Dystrophies, Hereditary - genetics; Defects; Deoxyribonucleic acid; Disease; Diseases of cornea, anterior segment and sclera; DNA; Female; Genes; Genetic testing; Genomes; homozygosity mapping; Homozygote; Humans; linkage analysis; Male; Medical sciences; Microsatellite Repeats; Ophthalmology; Original articles - Laboratory science; Pedigree; Polymorphism, Genetic; posterior polymorphous dystrophy; Human; Linkage; Congenital; Family study; Keratopathy; Homozygosity; Hereditary; Congenital disease; Genetic determinism; Differential diagnostic; Genetic disease; Polymerase chain reaction; Eye disease; Corneal dystrophy; Autosomal character; Dominant character

BACKGROUND Congenital hereditary endothelial dystrophy (CHED) is a corneal dystrophy characterised by diffuse bilateral corneal clouding resulting in impaired vision. It is inherited in either an autosomal dominant (AD) or autosomal recessive (AR) manner. The AD form of CHED has been mapped to the p...