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Related Experiment Videos

X-linked cone dysfunction syndrome with myopia and protanopia.

Michel Michaelides1, Samantha Johnson, Keith Bradshaw

  • 1Institute of Ophthalmology, University College London, London, United Kingdom.

Ophthalmology
|June 15, 2005
PubMed
Summary

This study investigates an X-linked cone dysfunction syndrome linked to myopia. Researchers found genetic variations in opsin genes, but the exact cause of cone dysfunction remains unclear in some cases.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • X-linked cone dysfunction syndromes can cause visual impairments.
  • Myopia is a common refractive error, and its association with cone dysfunction is unusual.
  • Understanding the genetic basis of these syndromes is crucial for diagnosis and potential treatments.

Purpose of the Study:

  • To conduct a comprehensive clinical, psychophysical, and molecular evaluation of four families with X-linked cone dysfunction and myopia.
  • To identify the genetic underpinnings of this rare visual disorder.

Main Methods:

  • Clinical examination and psychophysical testing of affected and unaffected family members.
  • DNA extraction and molecular genetic analysis, including polymerase chain reaction and DNA sequencing of cone opsin genes.

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  • Analysis focused on coding regions and locus control regions of long and middle wavelength-sensitive cone opsin genes.

    • Main Results:

    • A consistent phenotype of moderate to high myopia, astigmatism, reduced acuity, and normal fundi was observed across families.
    • Electroretinography revealed abnormal cone responses, while psychophysical tests indicated selective long cone impairment.
    • Molecular analysis identified specific genetic alterations, including hybrid genes and a Cys203Arg substitution, in some families, but the cause of protanopia was uncertain in one.

    Conclusions:

    • The described X-linked cone dysfunction syndrome shares features with Bornholm eye disease.
    • While some opsin gene alterations were found, they do not fully explain the cone dysfunction in all cases.
    • The genetic origin of the cone dysfunction may differ from that of the dichromacy in this syndrome.