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P. S. Schatz, S. K. Holfort, B. Sander, M. Hellstrom Pigg, M. Larsen; Phenotype and Genotype in Danish Families With Best Vitelliform Macular Dystrophy. Invest. Ophthalmol. Vis. Sci. 2009;50(13):6266.
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© ARVO (1962-2015); The Authors (2016-present)
To describe the genotype and phenotype in Danish patients with Best Vitelliform Macular Dystrophy (BMD).
Standard clinical ophthalmic investigation was performed. Electrophysiological investigations included electro-oculography (EOG), full-field ERG (ffERG) and multifocal ERG (mfERG). Imaging included optical coherence tomography (OCT) and fundus autofluorescence photography. Molecular genetic investigations included sequencing of BEST1 gene exons 2,4,6 and 8.
Depending on stage, several different patterns of structural alterations were found in patients, ranging from thickening of the choroid-pigment epithelium-photoreceptor complex, through subretinal fluid, and retinal atrophy. FfERG was normal. All patients had reduced Arden ratios by EOG. MfERG showed reduction of central retinal function. Mutation findings included c.[275G>A] leading to p.[Arg92His], c.[936C>A] leading to p.[Asp312Glu], c.[C349G] leading to p.[Leu82Val], and c.[253T>C] leading to p.[Thr85His].
Phenotype varied according to stage of disease. Novel mutations were found in BEST1.
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