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Eric H. Souied, Dominique Ducroq, Jean–Michel Rozet, Sylvie Gerber, Isabelle Perrault, Margaret Sterkers, Nathanael Benhamou, Arnold Munnich, Gabriel Coscas, Gisèle Soubrane, Josseline Kaplan; A Novel ABCR Nonsense Mutation Responsible for Late-Onset Fundus Flavimaculatus. Invest. Ophthalmol. Vis. Sci. 1999;40(11):2740-2744.
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purpose. To report the ophthalmologic features of a novel truncating mutation in
the ABCR gene in a patient affected with late-onset
fundus flavimaculatus (FFM).
methods. A complete ophthalmologic examination was performed in a 70-year-old
patient, including best-corrected visual acuity measurement, slit lamp
and fundus examination, fundus photographs, frequent fluorescein and
indocyanine green angiographies, visual field testing, color vision
analysis, electroretinogram, and electro-oculogram. The 50 exons of the ABCR gene were analyzed using direct sequencing.
results. Fluorescein and indocyanine green angiographies confirmed the diagnosis
of FFM. A heterozygous base change was found, resulting in the
substitution of an arginine to a stop at codon 152 of the ABCR gene.
conclusions. A heterozygous nonsense ABCR gene mutation was found in
a patient affected with FFM. No other mutation has been identified in
the entire coding sequence and the promoter region, suggesting that a
heterozygous severe ABCR mutant may be responsible for a
mild and delayed FFM phenotype, different from that of age-related
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