About Best Disease
Best Disease is a macular dystrophy caused by mutations in the BEST1 gene encoding bestrophin-1, a calcium-activated chloride channel expressed in the retinal pigment epithelium that regulates fluid and ion transport across the RPE-photoreceptor interface. The disease is characterised by the accumulation of lipofuscin-like material beneath the fovea, classically producing a yellowish egg-yolk lesion that progresses through defined stages including vitelliruptive, scrambled egg, and atrophic phases, with central vision declining as atrophy advances. Diagnosis is supported by a markedly reduced or absent Arden ratio on electro-oculography (EOG), which reflects RPE dysfunction even in asymptomatic carriers.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Best Disease trials.
Genetic confirmation of a BEST1 pathogenic variant is important, as EOG abnormalities alone are not sufficient for some trial eligibility criteria.
The stage of the vitelliform lesion (vitelliruptive vs. atrophic) significantly affects eligibility; trials targeting earlier stages may exclude patients with established geographic atrophy.
Report any sudden vision change promptly before screening, as choroidal neovascularisation may require treatment that could affect trial participation.
Patient Resources
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