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In Reply We agree that genotype-phenotype differences in patients with BEST1 mutations are poorly understood and may underlie the apparent differences between the 2 studies. Furthermore, light adaptation at the time of SD-OCT imaging acquisition can affect the appearance of the outer retinal bands, as shown recently by Abràmoff et al1 and Godara et al.2 As we did not control for light adaptation at the time of SD-OCT imaging acquisition in patients with Best vitelliform macular dystrophy, this might also explain the different results.
Stepien KE, Kay DB, Carroll J. Outer Segment Length in Different Best Disease Genotypes—Reply. JAMA Ophthalmol. 2014;132(9):1153. doi:10.1001/jamaophthalmol.2014.2984