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}; {53: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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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 50 free, full-text research articles on human participants. First 3 results:

Microperimetric evaluation in patients with adult-onset foveomacular vitelliform dystrophy.
 

Author(s): Pier Luigi Grenga, Serena Fragiotta, Alessandro Cutini, Alessandro Meduri, Enzo Maria Vingolo

Journal: Indian J Ophthalmol. 2017 May;65(5):385-389.

 

To compare mean best-corrected visual acuity (BCVA), retinal sensitivity (RS), and bivariate contour ellipse area (BCEA) in patients with adult-onset foveomacular vitelliform dystrophy (AOFVD) and healthy subjects (HSs), reporting also functional disease-related changes in the different ...

Last Updated: 2 Jun 2017

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Prevalence of reticular pseudodrusen in newly presenting adult onset foveomacular vitelliform dystrophy.
 

Author(s): C Wilde, A Lakshmanan, M Patel, M U Morales, S Dhar-Munshi, W M K Amoaku

Journal: Eye (Lond). 2016 Jun;30(6):817-24.

 

PurposeTo report the association and prevalence of reticular pseudodrusen (RPD) in eyes with newly presenting adult onset foveomacular vitelliform dystrophy (AFVD). To compare the strength of association with other pathologies resulting from dysfunction of the choroid-Bruch's membrane-retinal ...

Last Updated: 9 Jun 2016

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[Choroidal neovascularization complicating Best's vitelliform macular dystrophy in a child].
 

Author(s): A Elkhoyaali, S Chatoui, N Bercheq, N Elouatassi, R Zerrouk, F Elasri, K Reda, A Oubaaz

Journal: J Fr Ophtalmol. 2016 Jan;39(1):69-73.

 

Best's disease is a progressive macular dystrophy, beginning either in childhood or adolescence.

Last Updated: 22 Jan 2016

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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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Symptoms, Diagnosis, and Treatment

 
 
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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: 21 Mar 2017

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Inherited Retinal Degenerative Disease Registry
 

Status: Recruiting

Condition Summary: Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

 

Last Updated: 13 Sep 2017

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