Definition
Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a macular dystrophy sharing phenotypic features with Best’s disease, with onset in the adult age (between the fourth and sixth decades) (Gass 1974). Sharp distinction between AOFVD and pattern dystrophies may be difficult (Deutman et al. 2006).
Etiology
The mechanism underlying the physiopathology of AOFVD is still unknown, but it has been postulated that there is an abnormal accumulation of lipofuscin that may be caused by the increased workload of metabolism and phagocytosis on the RPE cells in conjunction with other disease-related factors (such as age, genetic predisposition, and environmental causes). As a result, the RPE layer is separated from the photoreceptor layer by hyperreflective material (Arnold et al. 2003). Mutations in the genes BEST1 (11q12), PRPH2 (6p21.1), or IMPG1...
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References
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Querques, G., Capuano, V., Puche, N., Souied, E.H. (2014). Adult-Onset Foveomacular Vitelliform Dystrophy. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_1104-1
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DOI: https://doi.org/10.1007/978-3-642-35951-4_1104-1
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