Genesis Centrum Genetyki Medycznej - GENESIS Center for Medical Genetics

Best macular dystrophy (BMD)
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