- Diagnosis of developmental glaucoma confirmed (preferably) by an ophthalmologist with a sub-specialist expertise in childhood glaucoma
- Availability of relevant phenotypic information including:
- structural assessment of anterior segment
- optic nerve head characteristics
- intraocular pressure at first presentation
- highest ever recorded IOP, where available
- slit lamp assessment of anterior segment
- ERG and VEP (if appropriate)
- Availability of non-ocular phenotypic information if appropriate:
- Presence/absence of maxillary hypoplasia
- umbilical anomaly
- cardiac anomalies (from history)
- growth delay
- dental anomalies
- metabolic disease (from history)
- Features of adult-onset glaucoma
- Suggestion of secondary (acquired) glaucoma, i.e. following trauma, intraocular neoplasm, uveitis, lens-related (subluxation, spherophakia, phacolytic), following lensectomy, drug-induced (corticosteroids), secondary to rubeosis, angle closure, associated with increased venous pressure, or following intraocular infection.
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:
- MYOC in cases of juvenile open angle glaucoma
- CYP1B1 in cases of primary congenital glaucoma
- PAX6 in cases of aniridia
These requirements will be kept under continual review during the main programme and may be subject to change.
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