Base color

Disease stage & settings

Cone dystrophy stage

Severity / cone degeneration progression 50%

Perceptual severity curve Multi-pass deep simulation

Image simulation

Choose image Upload JPG/PNG (max 1200 × 1200). See how a scene appears through early photophobic cone sensitivity loss, moderate central scotoma, or advanced achromatopsia-like pan-cone dysfunction.

Research notes

Cone dystrophy presents differently depending on the causal gene. In GUCY2D dominant cone dystrophy, de novo or inherited mutations impair the guanylate cyclase-1 enzyme responsible for restoring cGMP after light stimulation, trapping cone photoreceptors in a constitutively activated state. GUCA1A gain-of-function variants cause GCAP1 to constitutively activate GC1 independent of Ca²⁺ concentration — leading to toxic cGMP accumulation and cone apoptosis. The distinctive KCNV2 phenotype (autosomal recessive, "supernormal rod ERG") features a markedly abnormal photopic ERG with a paradoxically supernormal dark-adapted b-wave — a unique signature used diagnostically. RPGR ORF15 mutations are the most common cause of X-linked cone or cone-rod dystrophy, where progressive ciliary transport failure in cone outer segments drives photoreceptor loss.

Swatches

Normal

HEX: — • RGB: — • xy: —

CD affected

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ΔE (CIE76)

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ΔE (CIEDE2000)

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Deep preview

Normal

CD (deep)

Chromaticity (CIE xy)

Cone degeneration chromaticity shift

D65 white point: 0.313, 0.329

Image simulation

Cone dystrophy simulations model progressive photopic degeneration using a stage-dependent L-, M-, and S-cone channel reduction in the sRGB colour space, with greatest impact on the L and M channels in early stages (tritan axis loss) progressing to pan-cone failure in advanced disease. The central scotoma is a spatial deficit not representable as a uniform colour shift — this tool provides colour science approximations of the cone photoreceptor sensitivity reduction and chromaticity desaturation for educational and research purposes. ΔE2000 per Sharma et al. (2005). Not for clinical diagnosis — cone dystrophy requires electroretinography, colour vision testing (Farnsworth-Munsell 100 Hue, Ishihara), macular OCT, and genetic testing. New photophobia, reduced visual acuity, or colour vision loss requires ophthalmic assessment.

Multi-condition comparison

Condition A

Condition B

Steps

Compare early, moderate, and advanced cone dystrophy stages across severity grades. Image simulation applies progressive central cone loss with photophobia approximation to uploaded scenes.

Advanced mode

Causal gene / mutation class

ERG pattern

Fundus phenotype

Gene–phenotype correlation: GUCY2D dominant mutations typically cause earlier-onset, more severe cone dystrophy. GUCA1A gain-of-function leads to constitutively elevated cGMP. KCNV2 recessive mutations produce the pathognomonic "supernormal rod ERG" pattern. RPGR ORF15 mutations are the most common X-linked cause and may present as pure cone dystrophy or cone-rod dystrophy in the same family. CRX mutations can cause cone-rod dystrophy, Leber congenital amaurosis, or dominant late-onset retinitis pigmentosa depending on allele severity.

Model assumptions & limits

Early stage: predominantly reduces L and M cone channels (photopic luminance and red-green axis), with mild S-cone involvement — approximating early tritan-axis colour loss and photophobia (elevated cone gain without adequate cGMP restoration).
Moderate stage: progressively reduces all three cone channels with L-cone greatest weighting, simulating central scotoma and combined colour axis failure.
Advanced stage: severe pan-cone reduction — achromatopsia-like. The residual luminance signal is driven by surviving S-cone and intrinsically photosensitive retinal ganglion cells rather than classical L/M cones.