Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy

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Relevant diseases:

  • Leber Congenital Amaurosis (LCA)
  • Early-Onset Severe Retinal Dystrophy (EOSRD)

Inclusion criteria

  • Severe disorders in which there is progressive loss of rod and later cone photoreceptor function leading to severe visual impairment
  • Usually occurring as an isolated retinal abnormality but can be syndromic (e.g. Joubert syndrome, peroxisomal disorders, and Senior-Loken syndrome)
  • LCA: presentation from birth / early infancy with nystagmus, absence / marked reduction in pupillary responses, and severely reduced vision. ISCEV ERG undetectable or severely reduced.
  • EOSRD: presentation within the first 5 years of life with reduced visual acuity, poor night vision, and markedly reduced ISCEV ERG with greater rod than cone system involvement.

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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