British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene [8]

British Journal of Ophthalmology

Volumn 91, Issue 12, 2007, Pages 1717-1718

  Liskova, P ^a   Prescott, Q ^a   Bhattacharya, S S ^a   Tuft, S J ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; BLURRED VISION; CASE REPORT; CELL DENSITY; CHROMOSOME 1P; CONGENITAL CORNEA DYSTROPHY; CORNEA DISEASE; CORNEA EDEMA; DESCEMET MEMBRANE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGIC SKIN REACTION; HUMAN; LETTER; MALE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; AGED; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; COLLAGEN TYPE VIII; CORNEAL DYSTROPHIES, HEREDITARY; FEMALE; HUMANS; LEUCINE; MALE; MIDDLE AGED; MUTATION; PEDIGREE; TRYPTOPHAN;

EID: 36749018104     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2007.115154     Document Type: Letter

References (6)

1. Krachmer JH, Purcell JJ Jr. Young CW, Bucher KD. Corneal endothelial dystrophy. A study of 64 families. Arch Ophthalmol 1978;96:2036-9.
2. Biswas S, Munier FL, Yardley J, et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet 2001;10:2415-23.
3. Magovern M, Beauchamp GR, McTigue JW, et al. Inheritance of Fuchs' combined dystrophy. Ophthalmology 1979;86:1897-923.
4. Gottsch JD, Sundin OH, Liu SH, et al. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. Invest Ophthalmol Vis Sci 2005;46:1934-9.
5. Gottsch JD, Zhang C, Sundin OH, et al. Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene. Invest Ophthalmol Vis Sci 2005;46:4504-11.
6. Sundin OH, Jun AS, Broman KW, et al. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13. Invest Ophthalmol Vis Sci 2006;47:140-5.