Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family

Acta Ophthalmologica Scandinavica

Volumn 75, Issue 2, 1997, Pages 218-223

  Ponjavic, Vesna ^a,b   Abrahamson, Magnus ^a   Andréasson, Sten ^a   Ehinger, Berndt ^a   Fex, Göran ^a  

^a LUND UNIVERSITY   (Sweden)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Autosomal dominant retinitis pigmentosa; Clinical phenotype; Full field electroretinography; Mutation screening method; Point mutation; Rhodopsin gene

Indexed keywords

ARGININE; LEUCINE; RHODOPSIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; ELECTRORETINOGRAPHY; FEMALE; HUMAN; MALE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SCHOOL CHILD; SWEDEN;

EID: 0030950010     PISSN: 13953907     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0420.1997.tb00129.x     Document Type: Article

References (17)

1. Andréasson S & Ehinger B (1990): Electroretinographic diagnosis in families with X-linked retinitis pigmentosa. Acta Ophthalmol (Copenh) 68: 139-144.
2. Andréasson S, Ehinger B, Abrahamson M & Fex G (1992): A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (Arginine-135-Leucine). Ophthal Genet 13: 145-153.
3. Andréasson S, Ponjavic V & Ehinger B (1993): Full-field electroretinogram in a patient with cutaneous melanoma-associated retinopathy. Acta Ophthalmol (Copenh) 71: 487-490.
4. Berson EL, Rosen JB & Simonoff EA (1979): Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa. Am J Ophthalmol 87: 460-468.
5. Berson EL, Sandberg MA, Rosner B, Birch DG & Hanson AH (1985): Natural course of retinitis pigmentosa over a three year interval. Am J Ophthalmol 99: 240-251.
6. Dryja TP & Berson EL (1995): Retinitis pigmentosa and allied diseases - Implications of genetic heterogeneity. Invest Ophthalmol Vis Sci 36: 1197-1200.
7. Dryja TP, Hahn LB, Cowley GS, McGee TL & Berson EL (1991): Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 88: 9370-9374.
8. Jacobson SG, Kemp CM, Sung CH & Nathans J (1991): Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. Am J Ophthalmol 112: 256-271.
9. Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL & Dryja TP (1991): Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354: 480-483.
10. Keen J, Lester DH, Inglehearn CF, Curtis A & Bhattacharya SS (1991): Rapid detection of single hase mismatches as heteroduplexes on hydrolink gels. Trends Genet 7: 5.
11. Miller SA, Dykes DD & Polesky HF (1988): A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215.
12. Min KC, Zvyaga TA, Cypress AM & Sakmar TP (1993): Characterization of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. J Biol Chem 13: 9400-9404.
13. Nathans J & Hogness DS (1984): Isolation and nucleotide sequence of the gene encoding human rhodopsin. Proc Natl Acad Sci USA 81: 4851-4855.
14. Orita M, Suzuki Y, Sekiya T & Hayashi K (1989): Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879.
15. Rabin A & Berson EL (1974): A full-field system for clinical electroretinography. Arch Ophthalmol 92: 59-63.
16. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higushi R, Horn GT, Mullis KB & Erlich HA (1988): Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239: 487-491.
17. Sandberg MA, Weigel-DiFranco C, Dryja TP & Berson EL (1995): Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 9: 1934-1942.