Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene

Ophthalmic Genetics

Volumn 17, Issue 4, 1996, Pages 175-186

  Piguet, Bertrand ^a   Héon, Elise ^a,c   Munier, Francis L ^a,b   Grounauer, Pierre Alain ^a   Niemeyer, Gunter ^d   Butler, Noah ^e   Schorderet, Daniel F ^b   Sheffield, Val C ^e   Stone, Edwin M ^e  

^a HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c UNIVERSITY OF TORONTO   (Canada)

^d UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^e UNIVERSITY OF IOWA   (United States)

Author keywords

Autosomal dominant inheritance; Macular dystrophy; RDS peripherin gene mutation

Indexed keywords

PERIPHERIN; RHODOPSIN; TISSUE INHIBITOR OF METALLOPROTEINASE;

AGE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; DISEASE SEVERITY; DRUSEN; ELECTRORETINOGRAPHY; FAMILY STUDY; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; MALE; PERIMETRY; PHENOTYPE; PRIORITY JOURNAL; RETINA CONE; RETINA MACULA DEGENERATION; RETINA ROD; SWITZERLAND; VISUAL IMPAIRMENT;

EID: 0030446544     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.3109/13816819609057891     Document Type: Article

References (39)

1. Leibowitz H, Krueger DE, Maunder LR, et al. The Framingham eye study monograph. Surv Ophthalmol 1980; Suppl. 24: 335-610.
2. Klein R, Klein B, Linton K. Prevalence of age-related maculopathy: the Beaver Dam Eye Study. Ophthalmology 1992; 99: 933-943.
3. Evans J, Wormald R. Is the incidence of registrable age-related macular degeneration increasing? Br J Ophthalmol 1996; 80: 9-14.
4. Young R. Pathophysiology of age-related macular degeneration. Surv Ophthalmol 1987; 31(5): 291-307.
5. Pauleikhoff D, Zuels S, Sheraidah GS, Marshall J, Wessing A, Bird AC. Correlation between biochemical composition and fluorescein binding of deposits in Bruch's membrane. Ophthalmology 1992; 99: 1548-1553.
6. Holz F, Sheraidah G, Pauleikhoff D, Bird A. Analysis of lipid deposits extracted from human macular and peripheral Bruch's membrane. Arch Ophthalmol 1994; 112: 402-406.
7. Hyman L, Lilienfeld A, Ferris FI, Fine S. Senile macular degeneration: a case-control study. Am J Epidemiol 1983; 188: 213-227.
8. Piguet B, Wells J, Palmvang I, Wormand R, Chisholm I, Bird A. Age-related Bruch's membrane changes: a clinical study of the relative role of heredity and environment. Br J Ophthalmol 1993; 77: 400-403.
9. Klein ML, Mauldin WM, Stoumbos VD. Heredity and age-related macular degeneration. Arch Ophthalmol 1994; 112: 932-937.
10. Heiba IM, Elston RC, Klein BEK, Klein R. Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Eye Study. Genet Epidemiol 1994; 11: 51-67.
11. Silvestri G, Johnston P, Hughes A. Is genetic predisposition an important risk factor in age-related macular degeneration. Eye 1994; 8: 564-568.
12. Small KW, Weber JL, Roses A, Lennon F, Vance JM, Pericak-Vance MA. North Carolina macular dystrophy is assigned to chromosome 6. Genomics 1992; 13: 681-685.
13. Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Genetic linkage of vitelliform macular degeneration (Best disease) to chromosome 11q13. Nat Genet 1992; 1: 246-250.
14. Weber BHF, Vogt G, Wolz W, Ives EJ, Ewing CC. Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. Nat Genet 1994; 7: 158-161.
15. Lam B, Vandenburgh K, Sheffield V, Stone E. Retinitis pigmentosa associated with a dominant mutation in codon 46 of the RDS/peripherin gene (Arginine-46-Stop). Am J Ophthalmol 1995; 119: 65-71.
16. Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet 1993; 3: 202-207.
17. Wells J, Wroblewski J, Keen J, et al. Mutations in the human retinal degen eration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 1993; 3: 213-218.
18. 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.
19. Gorin M, Jackson K, Ferrel R, et al. A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. Ophthalmology 1995; 102: 246-255.
20. Nakazawa M, Wada Y, Tamai M. Macular dystrophy associated with monogenic Arg172Trp mutation of the periperin/RDS gene in a Japanese family. Retina 1995; 15: 518-523.
21. Niemeyer G, Demant E. Cone and rods ERG'S in degenerations of central retina. Albrecht Von Graefes Arch Klin Exp Ophthalmol 1983; 220: 201.
22. Knobel U, Niemeyer G. Amplituden-zunahme der b-Welle des Zapfen Elektroretinogramms während Helladaptation. Klin Monatsbl Augenheilkd 1994; 204: 430.
23. Marmor M, Zrenner E. Standard for clinical electroretinography (1994 update). Doc Ophthalmol 1994; 89: 199-210.
24. Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 1989; 17(20): 8390.
25. Sheffield VC, Cox DR, Lerman LR, Myers RM. Attachment of a 40-base-pair G+C-rich sequence (GC clamp). Proc Natl Acad Sci USA 1989; 86: 232-236.
26. Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM. The sensitivity of single strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 1993; 16: 325-332.
27. Gass J. Diseases causing choroidal exudative hemorrhagic localized (disciform) detachment of the retina and pigment epithelium. In: Klein E, editor. Stereoscopic Atlas of Macular Diseases, 3rd edition, Vol. I. St. Louis: CV Mosby 1987; 92-97.
28. Dryja TP, McGee TL, Reichel E, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990; 343: 364-366.
29. Nathans J, Davenport CN, Maumenee IH, et al. Molecular genetics of human blue cone monochromacy. Science 1989; 245: 831-838.
30. Weber B, Vogt G, Pruett R, Stöhr H, Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP 3) in patients with Sorsby's fundus dystrophy. Nat Genet 1994; 8: 352-356.
31. Wrobleski J, Wells J, Eckstein A, et al. Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene. Ophthalmology 1994; 101: 12-22.
32. Travis GH, Christerson L, Danielson PE, et al. The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. Genomics 1991; 10(3): 733-739.
33. Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/ RDS and ROM I loci. Science 1994; 264: 1604-1608.
34. Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol 1993; 111(11): 1531-1542.
35. Papermaster D, Nir I. Apoptosis in inherited retinal degeneration. In: Mihich E, Schimke R, editors. Apoptosis. New York: Plenum Press, 1994: 15-29.
36. Gregory C. Cell loss in retinal dystrophies by apoptosis-death by informed consent. Br J Ophthalmol 1995; 79: 186-190.
37. Papermaster D, Windle J. Death at an early age. Apoptosis in inherited retinal degenerations. Invest Ophthalmol Visual Sci 1995; 36: 977-983.
38. Lolley R. The rd gene defect triggers programmed rod cell death. The Proctor Lecture. Invest Ophthalmol Visual Sci 1994; 35(13): 4182-4191.
39. Small KW, Killian J, McLean WC. North Carolina's dominant progressive foveal dystrophy: how progressive is it? Br J Ophthalmol 1991; 75: 401-406.