ABCR unites what ophthalmologists divide(s)

Ophthalmic Genetics

Volumn 19, Issue 3, 1998, Pages 117-122

  Van Driel, Marc A ^a   Maugeri, Alessandra ^a   Klevering, B Jeroen ^a   Hoyng, Carel B ^a   Cremers, Frans P M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

ABCR; Age related macular degeneration; Cone rod dystrophy; Retinitis pigmentosa; Stargardt's disease

Indexed keywords

ABC TRANSPORTER;

ARTICLE; CHORIORETINOPATHY; EYE FUNDUS; GENE MUTATION; HUMAN; MONOGENIC DISORDER; MULTIFACTORIAL INHERITANCE; PHENOTYPE; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; RETINA ROD; RETINITIS PIGMENTOSA; STARGARDT DISEASE;

GADUS MORHUA;

EID: 0031794680     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.19.3.117.2187     Document Type: Article

References (22)

1. Blacharski PA. Fundus flavimaculatus. In: Newsome DA, editor. Retinal Dystrophies and Degenerations. New York: Raven Press, 1988; 135-159.
2. Kaplan J, Gerber S, Larget-Piet D, Rozet J-M, Dollfus H, Dufier J-L, Odent S, Postel-Vinay A, Janin N, Briard M-L, Frézal J, Munnich A. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet 1993;5:308-311.
3. Gerber S, Rozet J-M, Bonneau D, Souied E, Camuzat A, Dufier J-L, Amalric P, Weissenbach J, Munnich A, Kaplan J. A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. Am J Hum Genet 1995;56:396-399.
4. Zhang K, Bither PP, Park R, Donoso LA, Seidman JG, Seidman CE. A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. Arch Ophthalmol 1994;112:759-764.
5. Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet 1992;1:246-250.
6. Anderson KL, Baird L, Lewis RA, Chinault AC, Otterud B, Leppert M, Lupski JR. A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. Am J Hum Genet 1995;57:1351-1363.
7. Hoyng CB, Poppelaars F, van de Pol TJR, Kremer H, Pinckers AJLG, Deutman AF, Cremers FPM. Genetic fine mapping of the gene for recessive Stargardt disease. Hum Genet 1996;98:500-504.
8. Weber BHF, Sander S, Kopp C, Walker D, Eckstein A, Wissinger B, Zrenner E, Grimm T. Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases. Br J Ophthal 1996;80:745-749.
9. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 1997;15:236-246.
10. Gerber S, Rozet JM, van de Pol TJR, Hoyng CB, Munnich A, Blankenagel A, Kaplan J, Cremers FPM. Complete exon-intron structure of the retina specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. Genomics 1998;48:139-142.
11. Nasonkin I, Illing M, Koehler MR, Schmid M, Molday RS, Weber BHF. Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. Hum Genet 1998;102:21-26.
12. Bressler NM, Bressler SB, Fine SL. Age-related macular degeneration. Surv Ophthalmol 1988;32:375-413.
13. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997;277:1805-1807.
14. Dryja TP, Briggs CE, Berson EL, Rosenfeld PJ, Abitbol M, Klaver CCW, Assink JJM, Bergen AAB, van Duijn CM, Dean M, Allikmets R, Shroyer NF, Lupski JR, Lewis RA, Leppert M, Bernstein PS, Seddon JM. ABCR gene and age-related macular degeneration. Science 1998;279:1107.
15. Martinez-Mir A, Bayes M, Vilageliu L, Grinberg D, Ayuso C, del Rio T, Garcia-Sandoval B, Bussaglia E, Baiget M, Gonzales-Duarte R, Balcells S. A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics 1997;40:142-146.
16. Cremers FPM, van de Pol TJR, van Driel M, den Hollander AI, van Haren FJJ, Knoers NVAM, Tijmes N, Bergen AAB, Rohrschneider K, Blankenagel A, Pinckers AJLG, Deutman AF, Hoyng CB. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet 1998;7:355-362.
17. Martinez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, Vilageliu L, Gonzàlez-Duarte R, Balcells S. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet 1998;18:11-12.
18. Rozet JM, Gerber S, Perrault I, Chatelin S, Ghazi I, Dufier JL, Frezal J, Munnich A, Kaplan J. A single gene accounts for at least three different conditions: the Stargardt's paradox. Am J Hum Genet 1997;61:A105.
19. Sun H, Nathans J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nat Genet 1997;17:15-16.
20. Azarian SM, Travis GH. The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett 1997;409:247-252.
21. Heckenlively JR. Retinitis Pigmentosa, Philadelphia: Lippincott, 1988.
22. Welsh MJ, Tsui L-C, Boat TF, Beaudet AL. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, Inc., 1995, 3799-3876.