Abstract
Purpose: :
To describe the genotype and phenotype in Danish patients with Best Vitelliform Macular Dystrophy (BMD).
Methods: :
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.
Results: :
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].
Conclusions: :
Phenotype varied according to stage of disease. Novel mutations were found in BEST1.
Keywords: retinal degenerations: hereditary • electroretinography: clinical • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound)