Inherited Retinal Diseases

How are IRD patients treated?

The general eye specialist you see initially will refer you to a retinal specialist with expertise in IRDs.

• Diagnosis
  The retina specialist will assess your visual function and arrange for a series of clinicbased tests to confirm the diagnosis of IRD. These tests include electrophysiology, highly specialised imaging or scans and visual field testing.

• Genetic testing
  Following the diagnosis of IRD, most patients will undergo genetic testing by sending a blood sample or mouth swab to a laboratory to determine which genetic changes are responsible for your IRD.
  
  In some cases, confirmation of your genetic diagnosis may require other members of your family to also undergo genetic testing.
  
• Monitoring and treatment

  Following the initial diagnosis and genetic testing, IRD patients are monitored regularly for progression of the condition and the development of any complications, such as swelling of the retina, by a retinal specialist or paediatric ophthalmologist.
  
  Patients with syndromic RP may additionally require monitoring and treatment by other specialists, such as an ear, nose and throat (ENT) doctor and genetics doctor.