- Retinal degeneration as shown by decreased rod / cone responses on an ISCEV ERG and / or clear phenotypic evidence of retinal degeneration as shown by clinical features, e.g. retinal bone spicules, retinal thinning on OCT scans, typical visual field defects such as mid peripheral retinal scotoma.
- Evidence of bilateral retinal degeneration.
- History of retinal detachment or an inflammatory process (e.g. syphilis or tuberculosis infection) masquerading as unilateral retinal degeneration.
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.
These requirements will be kept under continual review during the main programme and may be subject to change.