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C.B. Hoyng, J.J. van Lith-Verhoeven, B. van den Helm, A.F. Deutman, A.A. Bergen, F.P. Cremers, P.T. de Jong; A Peculiar Autosomal Dominant Macular Dystrophy is Caused by an Asparagine Deletion at Codon 169 in the Peripherin/RDS Gene . Invest. Ophthalmol. Vis. Sci. 2003;44(13):5093.
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Purpose: To describe the clinical and genetic findings in a family with a peculiar autosomal dominant macular dystrophy with peripheral deposits. Methods: Twenty family members had an ophthalmic examination and in selected cases fluorescein angiography and electrophysiologic testing was performed. Their genomic DNA was screened for mutations in the peripherin/RDS and rhodopsin genes. Results: The age of onset of the disease was between the third and fourth decade, starting with mild visual acuity loss and periods of metamorphopsia. Clinical signs included subretinal yellowish macular deposits evolving into geographic atrophy and retinal hypo- and hyperpigmentations. Electroretinography demonstrated rod dysfunction and electrooculograms 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 RDS/peripherin protein and was not found in 155 control individuals. Conclusions: 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.
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