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Science 19 September 1997:
Vol. 277. no. 5333, pp. 1805 - 1807
DOI: 10.1126/science.277.5333.1805
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Reports

Mutation of the Stargardt Disease Gene (ABCR) in Age-Related Macular Degeneration

Rando Allikmets, * Noah F. Shroyer, * Nanda Singh, * Johanna M. Seddon, Richard Alan Lewis, Paul S. Bernstein, Andy Peiffer, Norman A. Zabriskie, Yixin Li, Amy Hutchinson, Michael Dean, dagger James R. Lupski, Mark Leppert

Age-related macular degeneration (AMD) is the leading cause of severe central visual impairment among the elderly and is associated both with environmental factors such as smoking and with genetic factors. Here, 167 unrelated AMD patients were screened for alterations in ABCR, a gene that encodes a retinal rod photoreceptor protein and is defective in Stargardt disease, a common hereditary form of macular dystrophy. Thirteen different AMD-associated alterations, both deletions and amino acid substitutions, were found in one allele of ABCR in 26 patients (16%). Identification of ABCR alterations will permit presymptomatic testing of high-risk individuals and may lead to earlier diagnosis of AMD and to new strategies for prevention and therapy.

R. Allikmets, Intramural Research Support Program, SAIC-Frederick, NCI-Frederick Cancer Research and Development Center, Frederick, MD 21702, USA.
N. F. Shroyer and Y. Li, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
N. Singh, A. Peiffer, M. Leppert, Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.
J. M. Seddon, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA.
R. A. Lewis, Departments of Molecular and Human Genetics, Ophthalmology, Pediatrics, and Medicine, Baylor College of Medicine, Houston, TX 77030, USA
P. S. Bernstein and N. A. Zabriskie, Department of Ophthalmology, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA.
A. Hutchinson and M. Dean, Laboratory of Genomic Diversity, NCI-Frederick Cancer Research and Development Center, Building 560, Room 21-18, Frederick, MD 21702-1201, USA.
J. R. Lupski, Departments of Molecular and Human Genetics and Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
*   These authors contributed equally to this work.

dagger    To whom correspondence should be addressed. E-mail: dean{at}fcrfv1.ncifcrf.gov

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   Abstract »    Full Text »    PDF »
Light Exposure and the Risk of Age-Related Macular Degeneration: The Pathologies Oculaires Liees a l'Age (POLA) Study.
C. Delcourt, I. Carriere, A. Ponton-Sanchez, S. Fourrey, A. Lacroux, L. Papoz, and for the POLA Study Group (2001)
Arch Ophthalmol 119, 1463-1468
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Mutations in ABCR (ABCA4) in Patients with Stargardt Macular Degeneration or Cone-Rod Degeneration.
C. E. Briggs, D. Rucinski, P. J. Rosenfeld, T. Hirose, E. L. Berson, and T. P. Dryja (2001)
Invest. Ophthalmol. Vis. Sci. 42, 2229-2236
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Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration.
C. G Sauer, K. White, H. Stohr, T. Grimm, A. Hutchinson, P. S Bernstein, R. A. Lewis, F. Simonelli, D. Pauleikhoff, R. Allikmets, et al. (2001)
Br J Ophthalmol 85, 969-975
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Delayed Dark-Adaptation and Lipofuscin Accumulation in abcr+/- Mice: Implications for Involvement of ABCR in Age-Related Macular Degeneration.
N. L. Mata, R. T. Tzekov, X. Liu, J. Weng, D. G. Birch, and G. H. Travis (2001)
Invest. Ophthalmol. Vis. Sci. 42, 1685-1690
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An Analysis of Allelic Variation in the ABCA4 Gene.
A. R. Webster, E. Héon, A. J. Lotery, K. Vandenburgh, T. L. Casavant, K. T. Oh, G. Beck, G. A. Fishman, B. L. Lam, A. Levin, et al. (2001)
Invest. Ophthalmol. Vis. Sci. 42, 1179-1189
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Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration.
R. H. Guymer, E. Heon, A. J. Lotery, F. L. Munier, D. F. Schorderet, P. N. Baird, R. J. McNeil, H. Haines, V. C. Sheffield, and E. M. Stone (2001)
Arch Ophthalmol 119, 745-751
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The ABCA4 Gene and Age-Related Macular Degeneration: Innocence or Guilt by Association.
M. B. Gorin (2001)
Arch Ophthalmol 119, 752-753
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Evolving pathophysiological paradigms for age related macular degeneration.
T. A CIULLA (2001)
Br J Ophthalmol 85, 510-512
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Pulsatile ocular blood flow study: decreases in exudative age related macular degeneration.
F. Mori, S. Konno, T. Hikichi, Y. Yamaguchi, S. Ishiko, and A. Yoshida (2001)
Br J Ophthalmol 85, 531-533
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Macular Pigment and Risk for Age-Related Macular Degeneration in Subjects from a Northern European Population.
S. Beatty, I. J. Murray, D. B. Henson, D. Carden, H.-H. Koh, and M. E. Boulton (2001)
Invest. Ophthalmol. Vis. Sci. 42, 439-446
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Retinal Degeneration 6 (rd6): A New Mouse Model for Human Retinitis Punctata Albescens.
N. L. Hawes, B. Chang, G. S. Hageman, S. Nusinowitz, P. M. Nishina, B. S. Schneider, R. S. Smith, T. H. Roderick, M. T. Davisson, and J. R. Heckenlively (2000)
Invest. Ophthalmol. Vis. Sci. 41, 3149-3157
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Complete genomic sequence of the human ABCA1 gene: Analysis of the human and mouse ATP-binding cassette A promoter.
S. Santamarina-Fojo, K. Peterson, C. Knapper, Y. Qiu, L. Freeman, J.-F. Cheng, J. Osorio, A. Remaley, X.-P. Yang, C. Haudenschild, et al. (2000)
PNAS 97, 7987-7992
   Abstract »    Full Text »    PDF »
Ultrastructural Changes in Bruch's Membrane of Apolipoprotein E-Deficient Mice.
S. Dithmar, C. A. Curcio, N.-A. Le, S. Brown, and H. E. Grossniklaus (2000)
Invest. Ophthalmol. Vis. Sci. 41, 2035-2042
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Photodamage to Human RPE Cells by A2-E, a Retinoid Component of Lipofuscin.
F. Schütt, S. Davies, J. Kopitz, F. G. Holz, and M. E. Boulton (2000)
Invest. Ophthalmol. Vis. Sci. 41, 2303-2308
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Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration.
N. L. Mata, J. Weng, and G. H. Travis (2000)
PNAS
   Abstract »    Full Text »
A full genome scan for age-related maculopathy.
D. E. Weeks, Y. P. Conley, T. S. Mah, T. O. Paul, L. Morse, J. Ngo-Chang, J.P. Dailey, R. E. Ferrell, and M. B. Gorin (2000)
Hum. Mol. Genet. 9, 1329-1349
   Abstract »    Full Text »    PDF »
Identification and Characterization of All-trans-retinol Dehydrogenase from Photoreceptor Outer Segments, the Visual Cycle Enzyme That Reduces All-trans-retinal to All-trans-retinol.
A. Rattner, P. M. Smallwood, and J. Nathans (2000)
J. Biol. Chem. 275, 11034-11043
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New ABCR Mutations and Clinical Phenotype in Italian Patients with Stargardt Disease.
F. Simonelli, F. Testa, Giuseppe de Crecchio, E. Rinaldi, A. Hutchinson, A. Atkinson, M. Dean, M. D’Urso, and R. Allikmets (2000)
Invest. Ophthalmol. Vis. Sci. 41, 892-897
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Age-Related Macular Degeneration.
S. L. Fine, J. W. Berger, M. G. Maguire, and A. C. Ho (2000)
N. Engl. J. Med. 342, 483-492
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Genetic susceptibility to age related macular degeneration.
J. R W Yates and A. T Moore (2000)
J. Med. Genet. 37, 83-87
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ABCR Gene Analysis in Familial Exudative Age-Related Macular Degeneration.
E. H. Souied, D. Ducroq, J.-M. Rozet, S. Gerber, I. Perrault, A. Munnich, G. Coscas, G. Soubrane, and J. Kaplan (2000)
Invest. Ophthalmol. Vis. Sci. 41, 244-247
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The Implications of Rod-Dependent Cone Survival for Basic and Clinical Research.
D. Hicks and J. Sahel (1999)
Invest. Ophthalmol. Vis. Sci. 40, 3071-3074
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Human ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindred.
A. T. Remaley, S. Rust, M. Rosier, C. Knapper, L. Naudin, C. Broccardo, K. M. Peterson, C. Koch, I. Arnould, C. Prades, et al. (1999)
PNAS 96, 12685-12690
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A Novel ABCR Nonsense Mutation Responsible for Late-Onset Fundus Flavimaculatus.
E. H. Souied, D. Ducroq, J.-M. Rozet, S. Gerber, I. Perrault, M. Sterkers, N. Benhamou, A. Munnich, G. Coscas, G. Soubrane, et al. (1999)
Invest. Ophthalmol. Vis. Sci. 40, 2740-2744
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Age-related Macular Degeneration and Antioxidant Status in the POLA Study.
C. Delcourt, J.-P. Cristol, F. Tessier, C. L. Leger, B. Descomps, L. Papoz, and and the POLA Study Group (1999)
Arch Ophthalmol 117, 1384-1390
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Effluxed lipids: Tangier Island's latest export.
M. W. Freeman (1999)
PNAS 96, 10950-10952
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TIMP-3 in Bruch’s Membrane: Changes during Aging and in Age-Related Macular Degeneration.
M. Kamei and J. G. Hollyfield (1999)
Invest. Ophthalmol. Vis. Sci. 40, 2367-2375
   Abstract »    Full Text »    PDF »


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