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C. J. Boon, M. J. van Schooneveld, A. I. den Hollander, J. J. van Lith-Verhoeven, M. N. Zonneveld-Vrieling, T. Theelen, F. P. Cremers, C. B. Hoyng, B. J. Klevering; Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus. Invest. Ophthalmol. Vis. Sci. 2007;48(13):4527.
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© ARVO (1962-2015); The Authors (2016-present)
To describe the phenotype and analyse the peripherin/RDS gene in ten unrelated families with multifocal pattern dystrophy simulating Stargardt disease/fundus flavimaculatus (STGD1).
The probands of 10 families, as well as 20 affected family members, underwent an ophthalmic examination including dilated fundus examination, fundus autofluorescence (AF) imaging and optical coherence tomography (OCT). In all probands and in selected family members, fluorescein angiography, electrophysiologic testing and visual field analysis were performed. Blood samples were obtained from affected and unaffected family members for analysis of the peripherin/RDS gene.
Nine different mutations in peripherin/RDS were identified. All probands showed a pattern dystrophy with yellow-white flecks in the posterior pole that strongly resembled the flecks seen in STGD1, on ophthalmoscopy as well as on AF and OCT. The flecks became confluent and atrophic in 4 patients. Two patients showed an evolution towards extensive atrophy of the posterior pole. Results from electrophysiologic testing and from visual field analysis varied greatly. Family members who carried the same mutation as the proband showed a wide range of retinal phenotypes, from no visible retinal abnormalities to a typical retinitis pigmentosa phenotype.
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy. This pattern dystrophy is easily confused with STGD1 and should be recognized, as the mode of inheritance is different and the overall visual prognosis seems better compared to STGD1.
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