Investigating ethnicity-related variability in the human L-cone spectral sensitivity function.

Schneider AC., Morimoto T., McClements ME., MacLaren RE., Smithson HE.

The human cone photoreceptor spectral sensitivities can differ between individuals. Large changes give rise to color vision deficiencies, but even among color-normals there is systematic individual variation. Characterizing the sources of this variation is important for understanding how well widely-used average spectral sensitivity functions represent diffferent observers. One contributor to individual differences in L-cone spectral sensitivity is the amino acid at position 180 of OPN1LW, which encodes the L-cone photopigment. Here, we examine group differences in the reported frequency of the L(S180) and L(A180) alleles using a combination of published reports and the genome sequencing database, gnomAD. We found the estimated allele frequencies differ across reported ethnicity categories. Thus, L-cone spectral sensitivity functions derived from historically available samples may not capture all population-level variation equally, particularly when applied to groups that were under-represented in the underlying datasets. We discuss how population-level variation of this kind relates to the interpretation and use of standard observer functions, and we outline recent promising work towards personalized cone fundamentals.

DOI

10.1016/j.visres.2026.108769

Type

Journal article

Publication Date

2026-02-19T00:00:00+00:00

Volume

243

Keywords

Cone spectral sensitivity, Ethnicity-related variability, Human color vision, gnomAD

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