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C.J. Boon, A.I. den Hollander, B.J. Klevering, M.N. Zonneveld, M.J. van Schooneveld, F.P. M. Cremers, C.B. Hoyng; Analysis of the RDS/Peripherin Gene in Macular Dystrophies . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5809.
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To date, 81 mutations in the RDS/peripherin gene have been reported in various retinal dystrophies. The purpose of this study was to analyse the RDS/peripherin gene in a group of patients with macular dystrophies and to perform detailed clinical examinations in these patients.
Sequence analysis of RDS/peripherin. Ophthalmological examination included fundoscopy, fluorescein angiography, autofluorescence imaging and optical coherence tomography.
In a group of 55 patients with different clinical types of macular dystrophies, four new mutations in RDS/peripherin were identified. In a patient with pattern dystrophy and fundus flavimaculatus–like spots, a 432_433delAG deletion was found. A 163delT deletion in exon 1 was shown in two patients with autosomal dominant macular dystrophy and characteristics of fundus flavimaculatus. In a patient with butterfly shaped macular dystrophy, a 658delC deletion was found in exon 2. A patient with central areolar choroidal dystrophy (CACD) was shown to carry a R172Q–mutation. The R142W mutation as described by Hoyng et al. (Am J Ophthalmol 1996 Jun;121(6):623–9) was found in 10 patients with CACD, and we report a case of non–penetrance.
The novel mutations in RDS/peripherin are associated with various macular dystrophies. To the best of our knowledge, we describe the first case of non–penetrance in a patient with the R142W mutation.
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