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See Latest ArticlesPhenotypic Variability Due to a Novel Glu292Lys Variation in Exon 8 of the BEST1 Gene Causing Best Macular Dystrophy
Archives of Ophthalmology, 07/16/09
Sohn EH et al. - Patients with the Glu292Lys variation in BEST1 exhibit intrafamilial and interfamilial phenotypic variability. A disproportionate fraction of Best disease–causing mutations occurs in exon 8, suggesting that the portion of protein encoded by this exon may be especially important to bestrophin's function. Relatively good visual acuity with vitelliform lesions can be explained by preservation of the outer retina, demonstrated by optical coherence tomography.
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