Publication Date:
1997-09-20
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Allikmets, R -- Shroyer, N F -- Singh, N -- Seddon, J M -- Lewis, R A -- Bernstein, P S -- Peiffer, A -- Zabriskie, N A -- Li, Y -- Hutchinson, A -- Dean, M -- Lupski, J R -- Leppert, M -- New York, N.Y. -- Science. 1997 Sep 19;277(5333):1805-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Intramural Research Support Program, SAIC-Frederick, NCI-Frederick Cancer Research and Development Center, Frederick, MD 21702, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/9295268" target="_blank"〉PubMed〈/a〉
Keywords:
ATP-Binding Cassette Transporters/*genetics/metabolism
;
Adult
;
Aged
;
Aged, 80 and over
;
Female
;
Frameshift Mutation
;
Heterozygote
;
Humans
;
Macula Lutea/pathology
;
Macular Degeneration/*genetics/metabolism/pathology
;
Male
;
Middle Aged
;
*Mutation
;
Pedigree
;
Pigment Epithelium of Eye/pathology
;
Retinal Drusen/pathology
;
Sequence Deletion
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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