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Relevant diseases:

  • Anophthalmia/microphthalmia

Anophthalmia (clinical absence of the eye) and severe microphthalmia (congenital reduction in the overall size of the globe) represent clinically significant inborn errors of early development.

 Inclusion criteria:

  • Unilateral or bilateral anophthalmia or microphthalmia

 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.

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:

  • Genome-wide copy number variation (e.g. aCGH, SNP array or other genomic microarray)
  • SOX2, OTX2 (severe, bilateral cases)

Closing statement 

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

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