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On the incidence of unilateral and bilateral colour blindness in heterozygous females

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Summary

In 303 mothers of colour-blind sons, both eyes were tested with pseudoisochromatic plates and with the anomaloscope. Two hundred thirty healthy normal and 56 colour-blind males served as controls. In good agreement with the expected proportion of homozygotes in our sample, 17 colour-blind mothers were detected. Eight others had difficulty reading pseudoisochromatic plates and were conspicuous at the anomaloscope. In these, both eyes were affected to a very similar, moderate degree. Monocular disturbances of colour vision were not observed in the entire series. Our data suggest that (1) in most (if not all) of the carriers with colour vision impairment, there is no complete lack of normal retina cones, and (2) the proportion of defective retina cones is remarkably similar in both eyes of individual heterozygotes.

The latter observation may indicate that at the time of X-differentiation there is a common primordial cell pool for both retinas.

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  1. Institut für Humangenetik und Anthropologie der Universität Freiburg, Albertsstraße 11, D-7800, Freiburg i. Br., Federal Republic of Germany

    Kurt Feig & Hans-Hilger Ropers

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  1. Kurt Feig
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Feig, K., Ropers, HH. On the incidence of unilateral and bilateral colour blindness in heterozygous females. Hum Genet 41, 313–323 (1978). https://doi.org/10.1007/BF00284765

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