The Spectrum of Subclinical Best Vitelliform Macular Dystrophy in Subjects with Mutations inBEST1Gene

Abstract

Subclinical Best VMD (absence of both symptoms and funduscopic lesions) in subjects with BEST1 mutation may vary from the absence of any morphologic and functional abnormalities to the presence of specific SD-OCT and EOG changes.

Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy

“…In the study by Querques et al [20], it seems that after a period of 63 months follow-up, subretinal fluid replaced vitelliform hyper-reflective material located between the photoreceptors and the retinal pigment epithelium, in a patient who presented with the latter finding at the age of 8 years. In another study by Querques et al [19], an 8 year old case displayed an isolated thickening at the level of the retinal pigment epithelium-photoreceptor interdigitation line, similar to our patient II (Fig. 2 Bottom), a finding which may represent the earliest noticeable structural alteration by SD-OCT in Best disease.…”

“…As far as we are aware, in addition to this study, SD-OCT findings in young patients (equal or less than 10 years old) with Best disease were described previously by others as follows: 1 case (imaging presented) [19], in 2 cases (imaging presented) [3], in 3 cases (1 case with imaging presented) [20], and in 2 cases (imaging presented) [21]. In the study by Querques et al [20], it seems that after a period of 63 months follow-up, subretinal fluid replaced vitelliform hyper-reflective material located between the photoreceptors and the retinal pigment epithelium, in a patient who presented with the latter finding at the age of 8 years.…”

Frequency, Genotype, and Clinical Spectrum of Best Vitelliform Macular Dystrophy: Data From a National Center in Denmark

“…The findings thus exceeded those reported recently in asymptomatic patients with Best disease, in whom a subtle thickening was demonstrated by SD-OCT between the retinal pigment epithelium and the photoreceptors. 21 Bestrophin is expressed in the retinal pigment epithelium and mutations in BEST1 lead frequently to the accumulation of subretinal fluid, presumably due to failure of the retinal pigment epithelium pump function, which is the primary mechanism keeping the subretinal space free from fluid in the physiological state. 22 Abnormalities of the photoreceptor outer segments were found over lesions featuring subretinal fluid, the extent of which correlated with the reduction of retinal function over these lesions (Figs.…”

Best vitelliform macular dystrophy: literature review

“…Different mutations might cause Best disease by different mechanisms. However, there seems to be no clear pattern relating type of BEST1 mutation to severity clinical expression [43]. Booij et al (2010) data suggest a phenotype-genotype correlation, because the Ala10Val mutation has a more rapid disease progression than other common mutations [6].…”