Macular Dystrophy, Vitelliform, 1; Vmd1

Description

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 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 (Hittner et al., 1984). Genetic Heterogeneity of Vitelliform Macular DystrophySee also vitelliform macular dystrophy-2 (VMD2 ), caused by mutation in the BEST1 gene (OMIM ) on chromosome 11q; VMD3 (OMIM ), caused by mutation in the PRPH2 gene (OMIM ) on chromosome 6p21; VMD4 (OMIM ), caused by mutation in the IMPG1 gene (OMIM ) on chromosome 6q14; and VMD5 (OMIM ), caused by mutation in the IMPG2 gene (OMIM ) on chromosome 3q12.

Clinical Features

Phenotypes and symptoms related to Macular Dystrophy, Vitelliform, 1; Vmd1

  • Visual loss
  • Reduced visual acuity
  • Abnormality of skin pigmentation
  • Macular dystrophy
  • Visual field defect
  • Vitelliform-like macular lesions

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Macular Dystrophy, Vitelliform, 1; Vmd1 Is also known as macular dystrophy, atypical vitelliform.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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