Mutations in the RDS and<unk> 2 genes cause<unk> . Mutations in the<unk> 2 gene are responsible for Best disease. Changes in either the<unk> 2 or RDS gene can cause the adult-onset form of<unk> ; however, fewer than a quarter of cases result from mutations in these two genes. In most cases, the cause of the adult-onset form is unknown. The<unk> 2 gene provides instructions for making a protein called bestrophin. 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. Mutations in the<unk> 2 gene probably lead to the production of an abnormally shaped channel that cannot regulate the flow of chloride. Researchers have not determined how these malfunctioning channels are related to the buildup of lipofuscin in the macula and progressive vision loss. The RDS gene provides instructions for making a protein called peripherin. This protein is essential for the normal function of light-sensing (photoreceptor) cells in the retina. Mutations in the RDS gene disrupt the structures in these cells that contain light-sensing pigments, leading to vision loss. It is unclear why RDS mutations affect only central vision in people with adult-onset<unk> .
Vitelliform macular dystrophy
Occult macular dystrophy
Meesmann corneal dystrophy
Macular corneal dystrophy
Granular corneal dystrophy
Fleck corneal dystrophy
Infiltrative ophthalmopathy
Subepithelial mucinous corneal dystrophy