Abstract

A family with protanomaly and deuteranomaly is reported. It consists of four members: two parents, a daughter, and a son. The father and the daughter are deuteranomalous, the son is protanomalous, and the mother is color normal. Clinical color vision tests including pseudo-isochromatic plates, Farnsworth's dichotomous test, lantern test, and anomaloscope were performed. PCR was done using primers to amplify exon 4 and 5 of X-linked visual pigment genes. The father and the daughter had LWS and MWS/LWS (exon4/5) hybrid genes. The son had MWS and LWS/MWS (exon4/5) hybrid genes. The mother had LWS, MWS, and LWS/MWS (exon4/5) hybrid genes. She is considered to have MWS and LWS/MWS hybrid genes on one X chromosome, which was passed to her son and an LWS gene on the other X-chromosome, which was passed to her daughter. © 2000 John Wiley & Sons, Inc. Col Res Appl, 26, S93–S95, 2001

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