Late onset dominant cone dystrophy with early blue cone involvement

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Abstract

A dominant cone dystrophy spanning seven generations was found in a pedigree from the Netherlands. The onset of the decline of visual acuity started after the age of 20, while a near complete absence of blue cone function (a so-called tritan defect) already existed before the presence of any ophthalmological abnormalities.

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Went, L. N., Van Schooneveld, M. J., & Oosterhuis, J. A. (1992). Late onset dominant cone dystrophy with early blue cone involvement. Journal of Medical Genetics, 29(5), 295–298. https://doi.org/10.1136/jmg.29.5.295

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