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

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

Science · 1997 · ▲ 880 citations

Epigenetic alterations Human

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Abstract

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.

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Provenance

Source: OpenAlex
DOI: 10.1126/science.277.5333.1805
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Fetched: 2026-10-19 MST

Cite this

APA

Allikmets, R.L., Shroyer, N.F., Singh, N., Seddon, J.M., Lewis, R.A., Bernstein, P.S., Peiffer, A.P., Zabriskie, N.A., Li, Y., Hutchinson, A.A., Dean, M.C., Lupski, J.R., & Leppert, M. (1997). Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration. <em>Science</em>. https://doi.org/10.1126/science.277.5333.1805

Vancouver

Allikmets RL, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, et al. Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration. Science. 1997. doi:10.1126/science.277.5333.1805.

BibTeX

@article{rando1997Mutati, title = {Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration}, author = {Rando L. Allikmets and Noah F. Shroyer and Nanda Singh and Johanna M. Seddon and Richard Alan Lewis and Paul S. Bernstein and Andy P. Peiffer and Norman A. Zabriskie and Yixin Li and Amy A Hutchinson and Michael C. Dean and James R. Lupski and Mark Leppert}, journal = {Science}, year = {1997}, doi = {10.1126/science.277.5333.1805}, }