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

Tuberous sclerosis complex with Best's vitelliform macular dystrophy: A combined presentation.
 

Author(s): Abhinav Dhami, P Vijayalakshmi Devi, Muna Bhende

Journal: Indian J Ophthalmol. 2018 Feb;66(2):295-296.

 

Last Updated: 31 Dec 1969

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Retinal pigment epithelium aperture: A late-onset complication in adult-onset foveomacular vitelliform dystrophy.
 

Author(s): Reema Bansal, Sonam Yangzes, Ramandeep Singh, Deeksha Katoch, Mangat R Dogra, Vishali Gupta, Amod Gupta

Journal: Indian J Ophthalmol. 2018 01;66(1):83-88.

 

The purpose of the study was to report aperture of retinal pigment epithelium (RPE) as a late complication and an unreported finding during the natural course of adult-onset foveomacular vitelliform dystrophy (AFVD).

Last Updated: 31 Dec 1969

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Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy.
 

Author(s): Ying Lin, Tao Li, Hongbin Gao, Yu Lian, Chuan Chen, Yi Zhu, Yonghao Li, Bingqian Liu, Wenli Zhou, Hongye Jiang, Xialin Liu, Xiujuan Zhao, Xiaoling Liang, Chenjin Jin, Xinhua Huang, Lin Lu

Journal: Mol Med Rep. 2017 Oct;16(4):4751-4755.

 

The aim of the present study was to investigate the clinical characteristics and the underlying genetic causes of Best vitelliform macular dystrophy (BVMD) in a sporadic case in a Chinese patient. A 10‑year‑old boy was diagnosed with BVMD; complete ophthalmic examinations were ...

Last Updated: 31 Dec 1969

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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

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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Cell Collection to Study Eye Diseases
 

Status: Recruiting

Condition Summary: Retinal Disease; AMD; Retinal Degeneration

 

Last Updated: 27 Mar 2018

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