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P.S. Schatz, V. Ponjavic, S. Andréasson, N. Dahl; A Recessive Form of Best's Vitelliform Macular Dystrophy With Different Mutations in Both VMD2 Alleles . Invest. Ophthalmol. Vis. Sci. 2005;46(13):554.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To describe the genotype and phenotype of members of a Swedish family with a novel, recessive form of Best's macular dystrophy. Methods: Venous blood samples were obtained from six family members and screened for mutations in VMD2. Six individuals were examined clinically and four of these were further investigated with full field electroretinography (full–field ERG), electrooculography (EOG), multifocal electroretinography (mfERG ) and OCT. Results: The Arg141His and the Tyr29stop mutation in VMD2 were identified in family members. Two individuals harboured both mutations, one mutation in each VMD2 allele. These two family members had abnormal EOG and full field ERG demonstrated widespread degeneration with prolonged implicit times in the cone 30 Hz flicker ERG. MfERG verified reduction of the central retinal function and OCT demonstrated intraretinal fluid, swelling, and thickening of the outer retina–RPE–choroid complex (ORCC). Conclusions: A novel, recessive, form of Best's macular dystrophy is described, with a severe phenotype. It is suggested that atypical forms of retinal degeneration, can be caused by mutations in VMD2.
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