Familial exudative vitreoretinopathy


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Inclusion criteria:

All probands should be diagnosed with bilateral retinopathy consistent with familial exudative vitreoretinopathy following detailed retinal examination and include at least one of the following features:

  • peripheral retinal avascularity (preferably demonstrated through fluorescein angiography)
  • subretinal or intraretinal exudation
  • retinal detachment
  • neovascularisation with or without vitreous haemorrhage

Examination of parents when available to distinguish recessive disease from dominant disease with variable expressivity. Individuals with severe or syndromic disease should be recruited according to standard guidance, typically as trios.

In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Exclusion criteria:

  • Birth weight below 1500g or under 32 weeks gestational age at birth.
  • Unilateral retinopathy
  • Localised retinal telangiectasia
  • Coat’s disease Peripheral angiomatous retinal malformation

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

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: No genes specified

Closing statement:

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

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