30

Simulate Best vitelliform macular dystrophy (BVMD, Best disease) — a dominantly inherited macular dystrophy caused by mutations in BEST1 (bestrophin-1, chromosome 11q13), a voltage-sensitive chloride channel in the basolateral membrane of retinal pigment epithelium (RPE) cells. Loss of bestrophin-1 function impairs chloride conductance across the RPE, disrupting the electro-oculogram (EOG) light peak — the hallmark Arden ratio below 1.5 is diagnostic even in carriers without visual symptoms. Abnormal fluid and lipofuscin handling beneath the macula produces the iconic vitelliform "egg-yolk" lesion: a round, yolk-yellow sub-RPE deposit at the fovea visible on fundoscopy. The disease progresses through five stages — previtelliform (normal vision, abnormal EOG only), vitelliform (egg-yolk deposit, variable acuity), pseudohypopyon (fluid layering), vitelliruptive ("scrambled egg", pigment migration, reduced acuity), and atrophic (RPE and photoreceptor loss, central scotoma, severely impaired acuity). Model the yellow-shift chromaticity displacement in the vitelliform stage, the progressive desaturation as the vitelliruptive stage disrupts the macular pigment, and the central acuity loss and colour discrimination failure of the atrophic stage. Inspect ΔE colour shift, CIE xy chromaticity displacement, and image simulation.

Learn more about Auric Artisan, our mission, and our values.

Base color
BVMD disease stage & settings
Severity / stage progression 50%
Image simulation
Upload JPG/PNG (max 1200 × 1200). Observe how central colour discrimination is affected by lipofuscin-induced yellow shift in vitelliform stage, then degrades toward achromatic central loss in the atrophic stage.
Research notes
Best vitelliform macular dystrophy (BVMD) was first described by Friedrich Best in 1905 as a bilateral, symmetric, well-circumscribed yolk-like lesion at the fovea. The underlying gene, BEST1 (encoding bestrophin-1), was identified by Petrukhin et al. in 1998. Bestrophin-1 is a voltage-gated chloride channel inserted in the basolateral membrane of RPE cells, integral to the apical-basolateral Cl⁻ transport that maintains retinal pigment epithelium homeostasis and subretinal fluid clearance. Greater than 300 pathogenic variants in BEST1 are known, most causing autosomal dominant BVMD — though autosomal recessive bestrophinopathy (ARB) and vitelliform macular dystrophy type 1 (VMD1) due to PRSS56 are related entities. The characteristic electrooculogram (EOG) abnormality — Arden ratio (light peak/dark trough) below 1.5 — is pathognomonic for bestrophinopathy and is present even in carriers with no visible fundus changes. Visual prognosis is highly variable; most patients retain functional central vision into the 5th-6th decade, but macular atrophy or choroidal neovascularisation (CNV) can cause earlier and more severe acuity loss.
Swatches
Normal
HEX: — • RGB: — • xy: —
BVMD affected
HEX: — • RGB: — • xy: —
ΔE (CIE76)
—
ΔE (CIEDE2000)
—
Deep preview
Normal
BVMD (deep)
Chromaticity (CIE xy)
Lipofuscin yellow-shift chromaticity displacement
D65 white point: 0.313, 0.329
Image simulation

BVMD simulations model bestrophin-1 dysfunction–induced lipofuscin yellow-shift (vitelliform stage), pigment disruption desaturation (vitelliruptive), and RPE atrophy–driven central colour loss (atrophic). Chromaticity shift approximates the yellow-orange sub-macular lipofuscin deposit effect in the sRGB colour space. True BVMD produces focal central distortion and metamorphopsia non-reproducible as uniform colour shift — this tool provides approximations for educational and research use. ΔE2000 per Sharma et al. (2005). Not for clinical diagnosis — BVMD requires fundoscopy, OCT, EOG (Arden ratio), fluorescein angiography and genetic testing. New visual distortion or loss requires ophthalmic assessment.

Multi-stage comparison
5
Compare colour shift across BVMD disease stages. The lipofuscin yellow-shift of the vitelliform stage gives way to progressive desaturation and central achromatic loss in the atrophic stage.