This is to review the current state of knowledge on the functional and clinical aspects of bestrophin 1, a prominent member of a family of proteins involved in the control and properties of the light peak of the EOG. Initially human bestrophin 1 gene (BEST1) mutations were identified to underlie Best vitelliform macular dystrophy (VMD), a dominantly inherited, juvenile-onset form of macular degeneration. In the recent past the phenotypical spectrum of retinal disorders associated with BEST1 mutations has been extended and the term bestrophinopathies was coined. The physiological role of bestrophin 1 is still not completely understood but has been linked to the generation of a transepithelial chloride current by controlling voltage-dependent calcium channels (VDCC). Dysfunction of bestrophin 1 may result in abnormal ion and fluid transport by the retinal pigment epithelium (RPE) disturbing and even disrupting direct interactions between the RPE and the photoreceptors.
ARB is a rare disease, presenting with obvious differences to a.d. Mobus Best. The phenotype can easily be identified by the extramacular multifocal yellowish lesions with increased FAF and accompanied by early loss of visual acuity. Specific diagnostic tests like OCT, FAF recordings and electrophysiology support the diagnosis. Molecular genetic screening confirms the diagnosis and the autosomal recessive inheritance.
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