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Related Experiment Videos

Autosomal recessive incomplete achromatopsia with protan luminosity function.

V C Smith, J Pokorny, F W Newell

    Ophthalmologica. Journal International D'Ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde
    |January 1, 1978
    PubMed
    Summary
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    This study describes a unique form of dichromatic color vision in a family with incomplete achromatopsia. Affected individuals exhibit severe color vision defects due to specific visual photopigments.

    Area of Science:

    • Ophthalmology
    • Genetics
    • Vision Science

    Background:

    • Incomplete achromatopsia is a rare genetic condition affecting color vision.
    • Previous diagnosis in 1966 identified 4 affected children with severe visual impairment.
    • Consanguineous marriage increases the likelihood of inheriting recessive genetic disorders.

    Purpose of the Study:

    • To characterize a unique form of dichromatic color vision in a family with incomplete achromatopsia.
    • To investigate the underlying visual photopigments responsible for the observed color vision defect.
    • To further evaluate a patient with incomplete achromatopsia through detailed color testing.

    Main Methods:

    • Heterochromatic flicker photometry was used to measure the luminous efficiency function.

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  • Colorimetric evaluation was performed for detailed color vision assessment.
  • Electroretinography (ERG) was utilized to assess rod and cone function.

    • Main Results:

    • Affected individuals presented with reduced visual acuity (6/60 to 6/180), pendular nystagmus, and photophobia.
    • Electroretinography showed minimal photopic responses with normal rod function.
    • The luminous efficiency function was similar to that of a protanope, indicating a specific color vision deficiency.
    • Colorimetric measurements suggested the presence of two visual photopigments: normal MWS cone photopigment and a rhodopsin-like photopigment.

    Conclusions:

    • The study identified a unique form of dichromatic color vision in incomplete achromatopsia.
    • This condition appears to be mediated by two distinct visual photopigments.
    • The findings contribute to understanding the genetic and physiological basis of rare color vision disorders.