An unusual clinical phenotype of avellino corneal dystrophy associated with an Arg124His βig-H3 mutation in an African-American woman

American Journal of Ophthalmology

Volumn 137, Issue 4, 2004, Pages 765-767

  Meallet, Mario A ^a,d   Affeldt, John A ^a   McFarland, Trevor J ^b   Appukuttan, Binoy ^b   Read, Rusell ^c   Stout, J Timothy ^b   Rao, Narsing A ^a  

^a LAC USC MEDICAL CENTER   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^d DOHENY EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID DERIVATIVE; ARGININE; CONGO RED; HISTIDINE;

AFRICAN AMERICAN; AGED; AMINO ACID SUBSTITUTION; ANTERIOR EYE CHAMBER; ARTICLE; ASSOCIATION; AVELLINO CORNEAL DYSTROPHY; BETAG HISTONE 3 GENE; CASE REPORT; CLINICAL FEATURE; CODON; CORNEA DYSTROPHY; CORNEA INJURY; CORNEA OPACITY; EPITHELIUM; EXON; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HISTOLOGY; HUMAN; PHENOTYPE; PRIORITY JOURNAL; STAINING; STELLATE CELL; STROMA;

EID: 1842556488     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(03)01150-4     Document Type: Article

References (5)

1. Munier F.L., Korvatska E., Djemai A., et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 15:1997;247-251.
2. Klintworth G.K. Advances in the molecular genetics of corneal dystrophies. Am J Ophthalmol. 128:1999;747-754.
3. Stone E.M., Mathers W.D., Rosenwasser G.O., et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet. 6:1994;47-51.
4. Holland E.J., Daya S.M., Stone E.M., et al. Avellino corneal dystrophy. Clinical manifestations and natural history. Ophthalmology. 99:1992;1564-1568.
5. Folberg R., Alfonso E., Croxatto J.O., et al. Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families. Ophthalmology. 95:1988;46-51.