Best Disease
Fundus image of a retina suffering from Best disease. Visible 'egg-yolk' formation.

Best Disease

Find out more about Juvenile Best Disease

Adult Vitelliform Macular Degeneration
Fundus image of a retina suffering from AVMD. Visible 'egg-yolk' formation.

Adult Vitelliform Macular Degeneration

Find out more about the adult form of Best’s Disease

Autosomal Recessive Bestrophinopathy (ARB)
Fundus image of a retina suffering from Autosomal Recessive Bestrophinopathy. Fundus appears speckled, with irregularities of the RPE cells and the presence of yellow/white dots or flecks scattered across the retina.

Autosomal Recessive Bestrophinopathy (ARB)

Find out more about Autosomal Recessive Bestrophinopathy (ARB)

Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)
Schematic of the fundus image of a retina suffering from ADVIRC. A highly pigmented circular band present in the outer regions (periphery) of the retina, with a distinct border between the highly pigmented retina and normal retina.

Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Fine out more about Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Retinitis Pigmentosa (RP)
Fundus image of a retina suffering from Retinitis Pigmentosa. Peripheral retina pigment deposits can be seen and a swelling macular

Retinitis Pigmentosa (RP)

Find out about Retinitis Pigmentosa (RP)

How is a Bestrophinopathy Diagnosed?
Left: Ophthalmoscope producing a fundus image. Right: Sequencer producing a sequencing trace.

How is a Bestrophinopathy Diagnosed?

There are different tests and read-outs which diagnose and distinguish the bestrophinopathies