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Normality of colour vision in a compound heterozygous female carrying protan and deutan defects

Background:  Inherited red‐green colour vision defects are quite common, affecting one in 12 males, but are less common in women, affecting about one in 250. Because red‐green defects are X‐linked, nearly 15 per cent of females are heterozygous carriers of red‐green colour deficiency. In addition, about one in 150 females are ‘double carriers’, where both of their X chromosomes have L/M gene arrays encoding a red‐green defect. If a woman carries the same type of colour vision defect on each X‐chromosome, she will be red‐green colour deficient, whereas if she carries opposing defects (protan versus deutan) on each X chromosome, she will have normal colour vision, owing to the process of X‐inactivation. These women are referred to as compound heterozygotes, though very few have been reported. Questions remain about whether the colour vision capacity of these women is comparable to that of ‘normal’ trichromats.