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Differential diagnosis of typical and atypical congenital achromatopsia

Analysis of a progressive foveal dystrophy and a nonprogressive oligo-cone trichromasy (general cone dysfunction without achromatopsia), both of which at first had been diagnosed as achromatopsia

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Summary

Report on two patients whose symptoms suggested the presence of congenital achromatopsia. In one case there was indeed total colour blindness, but a normal photopic ERG. Here, achromatopsia is the present stage in a process of slow functional decay of the central retina. Most probably the underlying disorder is progressive foveal dystrophy, a central form of cone dystrophy. In the other case there was a nonrecordable photopic ERG, but trichromatic colour vision. This appears to be a another patient with oligo-cone trichromasy (general cone dysfunction without achromatopsia), as described by Van Lith.

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Authors and Affiliations

  1. University Eye Hospital, Langenbeckstr. 1, D-6500, Mainz, Federal Republic of Germany

    T. Neuhann

  2. University Eye Hospital, Bergheimer Str. 20, D-6900, Heidelberg, Federal Republic of Germany

    H. Krastel & W. Jaeger

Authors
  1. T. Neuhann
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  2. H. Krastel
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  3. W. Jaeger
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Neuhann, T., Krastel, H. & Jaeger, W. Differential diagnosis of typical and atypical congenital achromatopsia. Albrecht von Graefes Arch. Klin. Ophthalmol. 209, 19–28 (1978). https://doi.org/10.1007/BF00419159

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