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'). Later, the affected area becomes deeply and irregularly pigmented and a process called 'scrambling the egg' occurs. The disorder is progressive and loss of vision may occur ({5:Braley, 1966}; {46:White et al., 2000}). Although some morphologic similarities exist between adult vitelliform macular dystrophy and the juvenile form of vitelliform macular dystrophy, they are generally considered distinct entities ({7:Brecher and Bird, 1990}; {13:Felbor et al., 1997}; {23:Kramer et al., 2000}). In multifocal vitelliform macular dystrophy, lesions are typically manifested as sharply demarcated yellowish cysts in the macula, near the retinal vascular arcades, and surrounding the optic disc (summary by {4:Boon et al., 2007}).
 

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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 44 free, full-text research articles on human participants. First 3 results:

BEST1 sequence variants in Italian patients with vitelliform macular dystrophy.
 

Author(s): Andrea Sodi, Ilaria Passerini, Vittoria Murro, Roberto Caputo, Giacomo Maria Bacci, Mirela Bodoj, Francesca Torricelli, Ugo Menchini

Journal: Mol. Vis.. 2012 ;18():2736-48.

 

To analyze the spectrum of sequence variants in the BEST1 gene in a group of Italian patients affected by Best vitelliform macular dystrophy (VMD).

Last Updated: 5 Dec 2012

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[Best's vitelliform macular dystrophy associated with choroidal neovascularization].
 

Author(s): A Céspedes, M Pérez-De-Arcelus, J García-Arumí

Journal: Arch Soc Esp Oftalmol. 2012 Oct;87(10):333-6.

 

We report the case of a child with a sudden loss of vision of the left eye. Ophthalmoscopic examination revealed vitelliform lesions in both foveal centers, as well as an adjacent hemorrhage in his left eye. Fluorescein angiography confirmed the presence of a neovascular membrane ...

Last Updated: 1 Oct 2012

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Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: case reports.
 

Author(s): Young Seob Lee, Eung-Suk Kim, Moosang Kim, Young-Gyun Kim, Hyung-Woo Kwak, Seung-Young Yu

Journal:

 

To report two cases of atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy.

Last Updated: 22 Jan 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
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: 18 Jun 2014

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Intravitreal Aflibercept Injections In The Treatment Of Pattern Dystrophy
 

Status: Recruiting

Condition Summary: Pattern Dystrophy of Macula

 

Last Updated: 17 Oct 2013

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