Developmental macular and foveal dystrophy


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Inclusion criteria

  • Absence of the fovea (synonym foveal hypoplasia – defined by preservation of inner retinal layers throughout the macula) OR
  • Congenital abnormality of the macula such as that seen in North Carolina Macular dystrophy, Bifocal chorioretinopathy and Sorsby syndrome OR
  •  Congenital foveal retinoschisis

Exclusion criteria

  • Foveal retinoschisis compatible with XL RS1 disease in a male (unless screened negative for RS1 mutations
  • Unilateral disease
  • Signs suggestive of an inflammatory aetiology such as toxocara and 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:

  • GPR143 if foveal hypoplasia is in the context of albinism confined to the eye and there is an X-linked history or typical carrier signs
  • PAX6 if foveal hypoplasia is in the context of aniridia
  • RS1 in males with foveal schisis

Closing statement

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

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