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A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus
E H Souied1, D Ducroq, J M Rozet
1Institut National de la Santé et de la Recherche Médicale U-393, Hôpital des Enfants-Malades, Paris, France.
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 macular degeneration.