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

R Allikmets, NF Shroyer, N Singh, JM Seddon… - Science, 1997 - science.org
R Allikmets, NF Shroyer, N Singh, JM Seddon, RA Lewis, PS Bernstein, A Peiffer…
Science, 1997science.org
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 …
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 ofABCR 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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