Macular dystrophy, atypical vitelliform

Common Name(s)

Macular dystrophy, atypical vitelliform

Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by {4:Manes et al., 2013}). In contrast to typical VMD (see {153700}), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals ({2:Hittner et al., 1984}). Genetic Heterogeneity of Vitelliform Macular Dystrophy See also vitelliform macular dystrophy-2 (VMD2; {153700}), caused by mutation in the BEST1 gene ({607854}) on chromosome 11q; VMD3 ({608161}), caused by mutation in the PRPH2 gene ({179605}) on chromosome 6p21; VMD4 ({616151}), caused by mutation in the IMPG1 gene ({602870}) on chromosome 6q14; and VMD5 ({616152}), caused by mutation in the IMPG2 gene ({607056}) on chromosome 3q12.
 

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Condition Specific Organizations

Following organizations serve the condition "Macular dystrophy, atypical vitelliform" for support, advocacy or research.

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Scientific Literature

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