[7] The bestrophins are an ancient family of structurally conserved proteins that have been identified in nearly every organism studied from bacteria to humans.

[8][9] Bestrophin-1 is an integral membrane protein found primarily in the retinal pigment epithelium (RPE) of the eye.

The structure of Best1 consists of five identical subunits that each span the membrane four times and form a continuous, funnel-shaped pore via the second transmembrane domain containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif.

[7][12] The location of expression of the BEST1 gene is essential for protein functioning and mislocalization is often connected to a variety of retinal degenerative diseases.

BVMD typically becomes noticeable in children and is represented by the buildup of lipofuscin (lipid residuals) lesions in the eye.

[6][10] Diagnosis normally follows an abnormal electrooculogram in which decreased activation of calcium channels in the basolateral membrane of the retinal pigment epithelium becomes apparent.

[7][10] Typically, people with this condition experience five progressively worsening stages, though timing and severity varies greatly.

[12] Adult-onset vitelliform macular dystrophy (AVMD) consists of lesions similar to BVMD on the retina.

Parents and family members typically show no abnormalities as the disease is autosomal recessive, indicating that both alleles of the BEST1 gene must be mutated.

All affected individuals experience a diminished response to light within their retina and may have changes in pigmentation, pale optic discs, fluid accumulation and decreased visual acuity.

However, as of 2017, researchers are currently working on discovering treatments with stem cell transplants of the retinal pigment epithelium.