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A Peculiar Autosomal Dominant Macular Dystrophy Caused by an Asparagine Deletion at Codon 169 in the Peripherin/RDS Gene
Janneke J. C. van Lith-Verhoeven, MD;
Bellinda van den Helm, BS;
August F. Deutman, MD, PhD;
Arthur A. B. Bergen, PhD;
Frans P. M. Cremers, PhD;
Carel B. Hoyng, MD, PhD;
Paulus T. V. M. de Jong, MD, PhD
Arch Ophthalmol. 2003;121:1452-1457.
Objective To describe the clinical and genetic findings in a family with a peculiar autosomal dominant macular dystrophy with peripheral deposits.
Methods All family members underwent an ophthalmic examination, and their genomic DNA was screened for mutations in the human retinal degeneration slow (peripherin/RDS) and rhodopsin genes. In selected cases, fluorescein angiography and electrophysiologic testing were performed.
Results The age at onset of the disease was between the third and fourth decades of life, starting with mild visual acuity loss and periods of metamorphopsia. Clinical signs included subretinal yellowish macular deposits evolving into geographic atrophy and retinal hypopigmentation and hyperpigmentation. Electroretinography demonstrated rod dysfunction, and electro-oculograms were mildly to severely disturbed. All affected members were found to carry a 3–base pair deletion affecting codon 169 of the peripherin/RDS gene. This mutation resulted in an asparagine (Asn) deletion in the peripherin/RDS protein and was not found in 155 control individuals.
Conclusion A deletion of Asn169 in the peripherin/RDS protein causes a peculiar form of autosomal dominant macular dystrophy in a large family from the Netherlands.
Clinical Relevance Characterizing the phenotype and genotype in this family may, in the long term, result in a better understanding of the precise mechanism underlying this retinal degeneration.
From the Departments of Ophthalmology (Drs van Lith-Verhoeven, Deutman, and Hoyng) and Human Genetics (Drs van Lith-Verhoeven and Cremers and Ms van den Helm), University Medical Center Nijmegen, Nijmegen, the Netherlands; Research Unit Ophthalmogenetics, the Netherlands Ophthalmic Research Institute, Koninklijke Nederlandse Akademie van Wetenschappen, Amsterdam (Drs Bergen and de Jong); Department of Ophthalmology, Academic Medical Center, Amsterdam (Dr de Jong); and Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, the Netherlands (Dr de Jong). The authors have no relevant financial interest in this article.
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