PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: A new mutation

European Journal of Ophthalmology

Volumn 20, Issue 4, 2010, Pages 724-732

  Coco, Rosa M ^a   Tellería, Juan J ^b   Sanabria, M Rosa ^a,c   Rodríguez Rúa, Enrique ^a,d   García, M Teresa ^a  

^a UNIVERSITY OF VALLADOLID   (Spain)

^b UNIVERSITY OF VALLADOLID   (Spain)

^c HOSPITAL UNIVERSITARIO RÍO HORTEGA   (Spain)

^d HOSPITAL CLÍNICO UNIVERSITARIO DE VALLADOLID   (Spain)

Author keywords

Adult onset foveomacular vitelliform dystrophy; Central areolar choroidal dystrophy; Diffuse macular dystrophy; Macular dystrophy; Peripherin RDS

Indexed keywords

FIBULIN 3; GLYCOPROTEIN; PERIPHERIN; TISSUE INHIBITOR OF METALLOPROTEINASE 3; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DRUSEN; FAMILY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RETINA MACULA DEGENERATION; RETINA MACULA VITELLIFORM DEGENERATION; RETINITIS PIGMENTOSA; SPAIN;

EID: 77955824827     PISSN: 11206721     EISSN: None     Source Type: Journal    
DOI: 10.1177/112067211002000413     Document Type: Article

References (33)

1. Sorsby A, Mason ME. A fundus dystrophy with unusual features. Br J Ophthalmol 1949; 33: 67-97.
2. Weber BH, Vogt G, Pruett RC, Stohr H, Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 1994; 8: 352-6.
3. Polkinghorne PJ, Capon MR, Berninger T, Lyness AL, Sehmi K, Bird AC. Sorsbyís fundus dystrophy. A clinical study. Ophthalmology 1989; 96: 1763-8.
4. Marmorstein LY, McLaughlin PJ, Peachey NS, Sasaki T, Marmorstein AD. Formation and progression of sub-retinal pigment epithelium deposits in EFEMP1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration. Hum Mol Genet 2007; 16: 2423-32.
5. Marmorstein L. Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review. Ophthalmic Genet 2004; 25: 219-26.
6. Klenotic PA, Munier FL, Marmorstein LY, Anand-Apte B. Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations. J Biol Chem 2004; 279: 30469-73.
7. Keen TJ, Ingleheam CF. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. Hum Mutat 1996; 8: 297-303.
8. Farrar GJ, Jordan SA, Kenna P, et al. Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6. Genomics 1991; 11: 870-4.
9. Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 1991; 354: 480-3.
10. Deutman AF, Van Blommestein JDA, Henkes HE, Vaardenburg PJ, Solleveld-Van Driest E. Butterfly-shaped pigment dystrophy of the fovea. Arch Ophthalmol 1970; 83: 558-69.
11. Giuffrè G, Lodato G. Vitelliform dystrophy and pattern dystrophy of the retinal pigment epithelium: concomitant presence in a family. Br J Ophthalmol 1986; 70: 526-32.
12. Payne AM, Downes SM, Bessant DA, Bird AC, Bhattacharya SS. Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene. Am J Hum Genet 1998; 62: 192-5.
13. Reig C, Serra A, Gean E, et al. A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. Ophthalmic Genet 1995; 16: 39-44.
14. 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: 213-8.
15. Wroblewski JJ, Wells JA III, Eckstein A, et al. Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene. Ophthalmology 1994; 101: 12-22.
16. Boon CJ, Van Schooneveld MJ, den Hollander Al, et al. Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1 /fundus flavimaculatus. Br J Ophthalmol 2007; 91: 1504-11.
17. Sohocki MM, Daiger SR Bowne SJ, et al. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat 2001; 17: 42-51.
18. Apfelstedt-Sylla E, Theischen M, Ruther K, Wedemann H, Gal A, Zrenner E. Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. Br J Ophthalmol 1995; 79: 28-34.
19. Boon CJ, Klevering BJ, Cremers FP, et al. Central areolar choroidal dystrophy. Ophthalmology 2009; 116: 771-82.
20. Lam BL, Vandenburgh K, Sheffield VC, Stone EM. Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop). Am J Ophthalmol 1995; 119: 65-71.
21. Renner AB, Fiebig BS, Weber BH, et al. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. Am J Ophthalmol 2009; 147: 518-30.
22. Yanagihashi S, Nakazawa M, Kurotaki J, Sato M, Miyagawa Y, Ohguro H. Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/ RDS gene. Arch Ophthalmol 2003; 121: 1458-61.
23. Boon CJ, den Hollander Al, Hoyng CB, Cremers FP, Klevering BJ, Keunen JE. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res 2008; 27: 213-35.
24. Zhuk SA, Edwards AO. Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion. Mol Vis 2006; 12: 811-5.
25. Hoyng CB, Deutman AF. The development of central areolar choroidal dystrophy. Graefes Arch Clin Exp Ophthalmol 1996; 234: 87-93.
26. Marmor MJ, Holder GE, Seeliger MW, Yamamoto S. ISCEV Standard for clinical electroretinography (2004 update). Doc Ophthalmol 2004; 108: 107-14.
27. Bach M, Hawlina M, Holder GE, et al. Standard for pattern electroretinography. International Society for Clinical Electrophysiology of Vision. Doc Ophthalmol 2000; 101: 11-8.
28. Meins M, Grüning G, Blankenagel A, et al. Heterozygous 'null allele' mutation in the human peripherin/RDS gene. Hum Mol Genet 1993; 2: 2181-2.
29. Sullivan LS, Bowne SJ, Birch DG, et al. Prevalence of disease- causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of Known genes in 200 families. Invest Ophthalmol Vis Sci 2006; 47: 3052-64.
30. Gamundi MJ, Hernan I, Muntanyola M, et al. High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. Mol Vis 2007; 13: 1031-7.
31. Toto L, Parodi MB, Baralle F, Casari G, Ravalico G, Romano M. Genetic heterogeneity in malattia leventinese. Clin Genet 2002; 62: 399-403.
32. Sauer CG, Shite K, Kellner U, et al. EFEMP1 is not associated with sporadic early onset drusen. Ophthalmic Genet 2001; 22: 27-34.
33. Ayyagari R, Griesinger IB, Bingham E, Lark KK, Moroi SE, Sieving PA. Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 gene. Arch Ophthalmol 2000; 118: 85-92.