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Eric H. Souied, Dominique Ducroq, Jean–Michel Rozet, Sylvie Gerber, Isabelle Perrault, Arnold Munnich, Gabriel Coscas, Gisèle Soubrane, Josseline Kaplan; ABCR Gene Analysis in Familial Exudative Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2000;41(1):244-247.
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purpose. Identification of genetic factors in the pathogenesis of age-related
macular degeneration (AMD) is of crucial importance in this common
cause of blindness. Mutations in the Stargardt disease gene
(ABCR) were previously reported in patients with atrophic
forms of AMD. The purpose of this study was to analyze familial
segregation of ABCR gene mutations in 52 unrelated
multiplex cases of exudative AMD.
methods. A complete ophthalmological examination including visual acuity
measurement, fundus examination, and fluorescein angiography (FA) was
performed on each exudative AMD patient. The entire coding sequence of
the ABCR gene was analyzed using a combination of
single-strand conformation polymorphism and confirmatory sequencing of
the exons showing an abnormal pattern of migration.
results. Six heterozygous missense changes were identified. A lack of familial
segregation was observed in 4 of 6 codon changes (Arg943Gln,
Val1433Ile, Pro1948Leu, and Ser2255Ile). Conversely, 2 codon changes
cosegregated with the disease in 2 small families: Pro940Arg and
conclusions. The authors believe that segregation of the ABCR gene
mutations with familial cases of AMD has not yet been shown. The
analysis of familial segregation allowed the authors to exclude 4 of 6
codon changes as disease-causing mutations. Furthermore, it was shown
here that the ABCR gene may be rarely involved in
exudative AMD, with at best 2 of 52 familial cases (4%) related to
this susceptibility factor.
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