Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration-Reference-Cited by-同舟云学术

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

Published:1997-09-19 Issue:5333 Volume:277 Page:1805-1807
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Allikmets Rando¹²³⁴⁵,Shroyer Noah F.¹²³⁴⁵,Singh Nanda¹²³⁴⁵,Seddon Johanna M.¹²³⁴⁵,Lewis Richard Alan¹²³⁴⁵,Bernstein Paul S.¹²³⁴⁵,Peiffer Andy¹²³⁴⁵,Zabriskie Norman A.¹²³⁴⁵,Li Yixin¹²³⁴⁵,Hutchinson Amy¹²³⁴⁵,Dean Michael¹²³⁴⁵,Lupski James R.¹²³⁴⁵,Leppert Mark¹²³⁴⁵

Affiliation:

1. R. Allikmets, Intramural Research Support Program, SAIC-Frederick, NCI-Frederick Cancer Research and Development Center, Frederick, MD 21702, USA.

2. N. F. Shroyer and Y. Li, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

3. N. Singh, A. Peiffer, M. Leppert, Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.

4. J. M. Seddon, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA.

5. R. A. Lewis, Departments of Molecular and Human Genetics, Ophthalmology, Pediatrics, and Medicine, Baylor College of Medicine, Houston, TX 77030, USA

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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