Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene

Archives of Ophthalmology

Volumn 121, Issue 10, 2003, Pages 1458-1461

  Yanagihashi, Satsuki ^a   Nakazawa, Mitsuru ^a   Kurotaki, Junji ^b   Sato, Motoya ^a   Miyagawa, Yasuhiro ^a   Ohguro, Hiroshi ^a  

^a HIROSAKI UNIVERSITY   (Japan)

^b Kurotaki Eye Clinic   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; LEUCINE; PERIPHERIN;

AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CENTRAL AREOLAR CHOROIDAL DYSTROPHY; CHOROID DISEASE; CHROMOSOME ANALYSIS; CODON; CONTROLLED STUDY; DISEASE SEVERITY; FAMILIAL DISEASE; GENE; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; RETINA MACULA DEGENERATION; RETINAL DEGENERATION SLOW GENE; RETINITIS PIGMENTOSA;

AGED; AMINO ACID SUBSTITUTION; ARGININE; CHOROID DISEASES; CODON; ELECTRORETINOGRAPHY; FLUORESCEIN ANGIOGRAPHY; GENES, DOMINANT; HUMANS; INTERMEDIATE FILAMENT PROTEINS; LEUCINE; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; NERVE TISSUE PROTEINS; PEDIGREE; POINT MUTATION;

EID: 0141919662     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.121.10.1458     Document Type: Article

References (5)

1. Farrar GJ, Kenna P, Jordan SA, et al. A three-base pair deletion in peripherin/RDS gene in one form of retinitis pigmentosa. Nature. 1991;354:478-480.
2. Wells J, Wroblewski J, Keen J, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993;3:213-218.
3. Nakazawa M, Wada Y, Chida Y, Tamai M. A correlation between computer-predicted changes in secondary structure and the phenotype of retinal degeneration associated with mutations in peripherin/RDS. Curr Eye Res. 1997;16:1134-1141.
4. Piguet B, Heon E, Munier FL, et al. Full characterization of the maculopathy associated with Arg-172-Trp mutation in the RDS/peripherin gene. Ophthalmic Genet. 1996;17:175-186.
5. Hoyng CB, Heutink P, Testers L, et al. Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene. Am J Ophthalmol. 1996;121:623-629.