Vitelliform macular dystrophy

Common Name(s)

Vitelliform macular dystrophy, Best disease

Vitelliform macular dystrophy, also known as Best disease, is a genetic eye disorder that causes vision loss that gets worse with time (progressive). This disorder affects the macula, which is an area on the back of the eye (retina) that helps with vision used for detailed tasks such as reading, driving, and recognizing faces (sharp central vision). The disease is caused by a buildup of a fatty yellow substance, called lipofuscin, in the macula cells. This buildup causes damage to these cells and leads to the symptoms of the disease, which includes blurry vision that leads to loss of central vision. This condition usually does not affect the vision on the side of the eyes (peripheral) or the ability to see at night. There are two forms of vitelliform macular dystrophy, an early onset form that usually begins in childhood (Best disease) and an adult onset form that typically begins in mid-adulthood.

Best disease is caused by a change (mutation) in the BEST1 gene. The condition is inherited in an autosomal dominant manner, meaning a mutation in only one of the two copies of the gene a person has is enough to cause the condition. There is currently no cure for Best disease and treatment typically consists of providing support for vision loss. If your child has been diagnosed with Best disease, talk with their doctor about all current treatment options. Support groups can provide additional information and connect you with other families affected by Best disease.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

Last Updated: 22 Sep 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

http://www.blindness.org

Last Updated: 22 Sep 2015

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General Support Organizations

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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 macular dystrophy" returned 45 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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Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy.
 

Author(s): Ying Lin, Tao Li, Chenghong Ma, Hongbin Gao, Chuan Chen, Yi Zhu, Bingqian Liu, Yu Lian, Ying Huang, Haichun Li, Qingxiu Wu, Xiaoling Liang, Chenjin Jin, Xinhua Huang, Jianhua Ye, Lin Lu

Journal: Mol Med Rep. 2018 Jan;17(1):225-233.

 

Best vitelliform macular dystrophy (BVMD) is a hereditary retinal disease characterized by the bilateral accumulation of large egg yolk‑like lesions in the sub‑retinal and sub‑retinal pigment epithelium spaces. Macular degeneration in BVMD can begin in childhood or adulthood. ...

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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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 macular dystrophy" returned 1 free, full-text review articles on human participants. First 3 results:

Macular hole-associated retinal detachment in Best vitelliform dystrophy: Series of two cases and literature review.
 

Author(s): Ruchir Tewari, Vinod Kumar, Raghav Ravani, Devashish Dubey, Parijat Chandra, Atul Kumar

Journal: Indian J Ophthalmol. 2018 05;66(5):708-711.

 

Two eyes of 2 patients with macular hole-associated retinal detachment in clinically diagnosed vitelliruptive stage of Best vitelliform dystrophy were surgically managed by 25-gauge sutureless pars plana vitrectomy, internal limiting membrane (ILM) peeling with inverted ILM flap, ...

Last Updated: 31 Dec 1969

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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: 4 Jul 2018

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