Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights

Abstract

Best Vitelliform Macular Dystrophy (BVMD) is a dominantly inherited retinal disease caused by dominant variants in the BEST1 gene. The original classification of BVMD is based on biomicroscopy and color fundus photography (CFP); however, advancements in retinal imaging provided unique structural, vascular, and functional data and novel insights on disease pathogenesis. Quantitative fundus autofluorescence studies informed us that lipofuscin accumulation, the hallmark of BVMD, is unlikely to be a primary effect of the genetic defect. It could be due to a lack of apposition between photoreceptors and retinal pigment epithelium in the macula with subsequent accumulation of shed outer segments over time. Optical Coherence Tomography (OCT) and adaptive optics imaging revealed that vitelliform lesions are characterized by progressive changes in the cone mosaic corresponding to a thinning of the outer nuclear layer and then disruption of the ellipsoid zone, which are associated with a decreased sensitivity and visual acuity. Therefore, an OCT staging system based on lesion composition, thus reflecting disease evolution, has been recently developed. Lastly, the emerging role of OCT Angiography proved a greater prevalence of macular neovascularization, the majority of which are non-exudative and develop in late disease stages. In conclusion, effective diagnosis, staging, and clinical management of BVMD will likely require a deep understanding of the multimodal imaging features of this disease.

An unusual case of rapid resolution of bilateral vitelliform deposits after discontinuation of pentosan polysulfate sodium

“…Additionally, the thickness of the ONL above the vitelliform lesions was correlated to retinal sensitivity. A similar study by Bianco et al 17 hypothesized that vitelliform lesions in Best vitelliform macular dystrophy resulted from lack of apposition of photoreceptors and RPE. This led to subretinal accumulation of shed photoreceptor outer segments, photoreceptor degeneration, and subsequent loss of retinal sensitivity.…”

Artificial Intelligence (AI) for Early Diagnosis of Retinal Diseases

“…Malfunctioning of this chloride channel, situated on the basolateral membrane of RPE cells, results in the subretinal accumulation of lipofuscin and unphagocytosed photoreceptor outer segments [93]. Clinically, this condition is marked by the characteristic "egg yolk" (vitelliform) macular lesion and a reduced Arden ratio (<1.5) on electrooculogram [94]. Although the original classification relied on fundus examination and photography, recent advances in retinal imaging have deepened our understanding of BVMD pathophysiology, leading to more accurate diagnosis and the development of novel staging systems [95][96][97][98].…”

Retinal Imaging Findings in Inherited Retinal Diseases

“…OCT imaging is also useful to depict the last stage of BVMD with fibrosis, atrophy, scarring, and/or macular neovascularization. Therefore, OCT B-scans can display and differentiate each of the stages of the BVMD, and are useful for the longitudinal monitoring of the disease [122][123][124][125]. Several studies have suggested that progressive enlargement of the area of EZ loss is associated with greater BCVA deterioration [126].…”