Cone Dysfunction Syndrome

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Relevant diseases:

  • Complete achromatopsia
  • Incomplete achromatopsia
  • Blue cone monochromatism
  • Oligocone trichromacy
  • Bradyopsia
  • Borholm eye disease

Inclusion criteria

  • Absent or severely reduced cone function from birth / early infancy with no significant evidence of rod involvement.
  • Presentation from birth / early infancy including some of these features: nystagmus, photophobia, reduced visual acuity, and reduced/absent colour vision.
  • Absent or severely reduced cone function with no significant rod dysfunction on ISCEV standard ERGs
  • Assessment of colour vision using tests that probe the 3 axes of colour

Exclusion criteria

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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