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Mutations in the  OPN1LW  ( L ‐) and  OPN1MW  ( M ‐)cone opsin genes underlie a spectrum of cone photoreceptor defects from stationary loss of color vision to progressive retinal degeneration. Genotypes of 22 families with a range of cone disorders were grouped into three classes: deletions of the locus control region ( LCR ); missense mutation (p. C ys203 A rg) in an  L ‐/ M ‐hybrid gene; and exon 3 single‐nucleotide polymorphism ( SNP ) interchange haplotypes in an otherwise normal gene array. Moderate‐to‐high myopia was observed in all mutation categories. Individuals with  LCR  deletions or p. C ys203 A rg mutations were more likely to have nystagmus and poor vision, with disease progression in some p. C ys203 A rg patients. Three disease‐associated exon 3  SNP  haplotypes encoding  LIAVA ,  LVAVA , or  MIAVA  were identified in our cohort. These patients were less likely to have nystagmus but more likely to show progression, with all patients over the age of 40 years having marked macular abnormalities. Previously, the haplotype  LIAVA  has been shown to result in exon 3 skipping. Here, we show that haplotypes  LVAVA  and  MIAVA  also result in aberrant splicing, with a residual low level of correctly spliced cone opsin. The  OPN1LW / OPN1MW :c.532 A > G   SNP , common to all three disease‐associated haplotypes, appears to be principally responsible for this mutational mechanism.

Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants