Analysis ID |
166 |
Analysis location |
Collaboration with another facility |
Diagnosed illness |
Best macular dystrophy (BMD) |
OMIM |
153700 |
Clinical information |
Vitelliform macular dystrophy (Best macular dystrophy) is a genetic eye disorder characterized by a progressive vision loss. This disease affects the retina, in particular macula, which is responsible for the central vision. In most patients with Best macular dystrophy, a fatty yellowish pigment (lipofuscin) is deposited in the cells underlying macula. There has been two forms of vitelliform macular dystrophy described in the literature. The early-onset form (known as Best disease) usually appears in childhood; the onset of symptoms and the severity are variable. The adult-onset form begins later, usually in mid-adulthood and leads to a gradual vision loss slowly progressing over time. |
Type of analysis |
Microarray |
Type of biological material |
5 ml of peripheral blood collected in an ETDA tube; DNA sample |
Analyzed genes |
BEST1 (VMD2) |
Analysis description |
Analysis consists of 138 mutations and polymorphisms of the BEST1 (VMD2) gene studied with use of microarray technology |
Analysis indication |
Best macular dystrophy |
Analysis time |
Appointed individually |
Refund |
No |
CGM laboratory name |
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