Inherited macular dystrophy


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  • Available phenotype data including ISCEV ERG, OCT and AF imaging
  • Diagnosis confirmed preferably by an ophthalmologist with a sub-specialist expertise in inherited retinal disease.

Inclusion criteria

  • Available phenotype data including ISCEV ERG, OCT and AF imaging
  • Diagnosis confirmed preferably by an ophthalmologist with a sub-specialist expertise in inherited retinal disease.

Exclusion criteria

  • Features of age-related macular degeneration (any two of – onset over 60 years, soft drusen, CNV, RPE atrophy)
  • Features of readily testable single gene disorders such as Doyne/dominant drusen (p.R345W in EFEMP1), Best (dominant or recessive alleles in BEST1), RDS (typical macular dystrophy associated with such alleles as p.R172W in RDS). These phenotypes are eligible if there is evidence of negative testing of the associated gene.
  • Unilateral disease
  • Suggestion of chloroquine, hydroxychlorquine or other retinotoxic drug aetiology
  • Signs suggestive of an inflammatory aetiology such as toxocara, toxoplasmosis.

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:

  • EFEMP1 in cases of Doyne/dominant drusen
  • BEST1 in cases of Best macular dystrophy
  •  PRPH2 (RDS) in cases of typical macular dystrophy

Closing statement

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

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