Rod Dysfunction Syndrome

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Relevant diseases:

  • Poor night vision from infancy / early childhood with no evidence of progression
  • Congenital stationary night blindness
  • Oguchi disease
  • Åland Island eye disease
  • Fundus albipunctatus

Inclusion criteria

  • Presentation from infancy / early childhood including some of these features: nystagmus, reduced visual acuity, and poor night vision.
  • ISCEV standard ERG has been performed.
  • Normal fundus appearance except for fundus albipunctatus (multiple discrete white dots scattered throughout the retina at the level of the RPE – most numerous in the mid-periphery and are usually absent at the macula) and Oguchi disease (greyish or green-yellow discoloration of the fundus, which reverts to normal on prolonged dark adaptation)

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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