Vitelliform macular dystrophy is an irregular autosomal dominant eye disorder which can cause progressive vision loss.

The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.

The condition is characterized by yellow (or orange), slightly elevated, round structures similar to the yolk (Latin vitellus) of an egg.

[2] Best disease is inherited in an autosomal dominant pattern,[3] which means one copy of the altered gene in each cell is sufficient to cause the disorder.

[4] Although its exact function is uncertain, this protein likely acts as a channel that controls the movement of negatively charged chlorine atoms (chloride ions) into or out of cells in the retina.

It is unclear why RDS mutations affect only central vision in people with adult-onset vitelliform macular dystrophy.

Vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to build up in cells underlying the macula.