Inherited optic neuropathies

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Inclusion criteria:

  • Optic atrophy occurring either in isolation or in association with other multisystemic features
  • Evidence of optic nerve dysfunction on clinical examination
  • Additional objective evidence of primary retinal ganglion cell dysfunction with optical coherence tomography imaging and/or visual electrophysiology performed to ISCEV standards

Exclusion criteria :

  • Acquired causes of an optic neuropathy have been fully excluded with the relevant investigations, including neuroimaging
  • Optic atrophy secondary to inherited outer retinal disease

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.

Prior genetic testing genes 

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • Testing for mitochondrial DNA mutations

Closing statement

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

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