Vitelliform dystrophy

Common Name(s)

Vitelliform dystrophy

Best vitelliform macular dystrophy is an early-onset autosomal dominant disorder characterized by large deposits of lipofuscin-like material in the subretinal space, which creates characteristic macular lesions resembling the yolk of an egg ('vitelliform'). Although the diagnosis of Best disease is often made during the childhood years, it is more frequently made much later and into the sixth decade of life. In addition, the typical egg yolk-like lesion is present only during a limited period in the natural evolution of the disease; later, the affected area becomes deeply and irregularly pigmented and a process called 'scrambling the egg' occurs, at which point the lesion may appear as a 'bull's eye.' The disorder is progressive and loss of vision may occur. A defining characteristic of Best disease is a light peak/dark trough ratio of the electrooculogram (EOG) of less than 1.5, without aberrations in the clinical electroretinogram (ERG). Even otherwise asymptomatic carriers of BEST1 mutations, as assessed by pedigree, will exhibit an altered EOG. Histopathologically, the disease has been shown to manifest as a generalized retinal pigment epithelium (RPE) abnormality associated with excessive lipofuscin accumulation, regions of geographic RPE atrophy, and deposition of abnormal fibrillar material beneath the RPE, similar to drusen. Occasional breaks in the Bruch membrane with accompanying neovascularization have also been reported, although Best disease is not noted for extensive choroidal neovascularization. Many of these features are also found in age-related macular degeneration (see {603075}) (summary by {5:Braley, 1966}; {52:White et al., 2000}; {29:Marmorstein et al., 2000}; {26:Leroy, 2012}). For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 ({153840}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Vitelliform dystrophy" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Vitelliform dystrophy" returned 47 free, full-text research articles on human participants. First 3 results:

Multimodal analysis of the progression of Best vitelliform macular dystrophy.
 

Author(s): Giuseppe Querques, Jennyfer Zerbib, Anouk Georges, Nathalie Massamba, Raimondo Forte, Lea Querques, Jean-Michel Rozet, Josseline Kaplan, Eric H Souied

Journal:

 

To investigate the multimodal morphological features in the different stages of Best vitelliform macular dystrophy (VMD) in subjects harboring mutations in the BEST1 gene, and their changes during the progression of the disease.

Last Updated: 5 May 2014

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Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy.
 

Author(s): Tobias Duncker, Jonathan P Greenberg, Rithambara Ramachandran, Donald C Hood, R Theodore Smith, Tatsuo Hirose, Russell L Woods, Stephen H Tsang, François C Delori, Janet R Sparrow

Journal:

 

Quantitative fundus autofluorescence (qAF), spectral domain optical coherence tomography (SD-OCT) segmentation, and multimodal imaging were performed to elucidate the pathogenesis of Best vitelliform macular dystrophy (BVMD) and to identify abnormalities in lesion versus nonlesion fundus areas.

Last Updated: 14 Mar 2014

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Comparison of macular choroidal thickness in adult onset foveomacular vitelliform dystrophy and age-related macular degeneration.
 

Author(s): Florence Coscas, Nathalie Puche, Gabriel Coscas, Mayer Srour, Catherine Français, Agnes Glacet-Bernard, Giuseppe Querques, Eric H Souied

Journal:

 

To compare macular choroidal thickness (MCT) in eyes with adult onset foveomacular vitelliform dystrophy (AOFVD) and eyes with AMD.

Last Updated: 6 Jan 2014

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Reviews from the PubMed Database

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The terms "Vitelliform dystrophy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases.
 

Status: Recruiting

Condition Summary: Retinal Disease; Bestrophinopathy; Best Vitelliform Macular Dystrophy; Adult Onset Vitelliform Macular Dystrophy; Autosomal Dominant Vitreoretinalchoroidopathy

 

Last Updated: 11 Jun 2014

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Cell Collection to Study Eye Diseases
 

Status: Recruiting

Condition Summary: Retinal Disease; AMD; Retinal Degeneration

 

Last Updated: 31 Dec 2014

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