Table 3 Recommendations for developing a national IRD programme

 Identify national centres of ophthalmic expertise that are staffed and resourced to see patients with IRDs

Engage and partner with support agencies and patient organisations

Concentrate clinical genetics and support services at these sites

Encourage referrals of all diagnosed or suspected IRD cases to these centres. Follow up can be at regional centres with appropriate clinical testing capability

Have a robust pathway for funded genetic testing and resolution of contentious variants (via MDT and partnerships with other international laboratories)

Routinely use and regularly update variant classification (e.g., in silico and functional analysis for novel variants) and collaborative databases (e.g., ClinVar, RetNet)

Become members of international alliances (e.g., ERN-EYE) to share and gain knowledge and expertise of rare eye disease

Establish therapeutic pathways nationally and internationally

Create bespoke care plans for each patient/pedigree

Audit outcomes for patients