Adult-Onset Best1-Vitelliform Dystrophy Associated With Angioid Streak-Like Changes in Two Siblings

Li, Yafeng; Bracha, Peter; Alemán, Tomás S.; Brucker, Alexander J.

doi:10.1097/icb.0000000000001164

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“… 3 , 12 – 14 Moreover, Gass’ staging was introduced well before the advent of OCT and not surprisingly, there are often discrepancies between Gass’ stages and OCT features. Lastly, 30% of patients feature multifocal lesions within and outside the foveal region, 15 – 17 and may present with atypical fundus features that cannot be easily assigned to a univocal Gass’ stage, such as the pattern dystrophy-like phenotype associated with the p.Ala243Val variant ( Figure 2 ). 18 …”

Section: Color Fundus Photography and Gass’ Classification Of Bvmdmentioning

confidence: 99%

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

Bianco

Arrigo

Antropoli

et al. 2023

European Journal of Ophthalmology

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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.

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Section: Color Fundus Photography and Gass’ Classification Of Bvmdmentioning

confidence: 99%

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

Bianco

Arrigo

Antropoli

et al. 2023

European Journal of Ophthalmology

View full text Add to dashboard Cite

show abstract

Adult-Onset Best1-Vitelliform Dystrophy Associated With Angioid Streak-Like Changes in Two Siblings

Abstract: A video accompanies the article.

Cited by 1 publication

References 32 publications

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

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

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