The Spectrum of Subclinical Vitelliform Macular Dystrophy in Subjects With Mutations in the BEST1 Gene

Purpose: To describe subclinical vitelliform macular dystrophy (VMD). Methods: Eight asymptomatic relatives of VMD patients with BEST1 mutations were functionally, morphologically, and genetically evaluated. Results: All subjects showed 20/20 visual acuity and absence of funduscopic lesions. In 2 subjects we did not find any mutation in BEST1. In 3 subjects (6 eyes) with BEST1 mutations (2 families: p.G15D; p.A243V), spectral domain OCT showed normal findings. In 3 subjects (6 eyes) with BEST1 mutations (3 families: p.V9A; p.R92C; p.I230T), we found, on spectral domain OCT, a thicker and more reflective appearance of the layer between the retinal pigment epithelium and the inner segment/outer segment interface. Changes on OCT were present in the absence of EOG abnormalities, and vice versa. Conclusion: Subclinical VMD in subjects with BEST1 mutations may be extremely variable.