A genetic diagnosis is where genetic testing is used to tell you what gene mutation is causing your IRD. It’s used to validate and confirm the clinical diagnosis and find out exactly what is wrong. Genetic testing involves looking at your DNA, usually from a blood sample, and sequencing your genes to find the specific mutations related to your IRD.
Examination Process
Your doctor or ophthalmologist may carry out a number of different tests to diagnose IRD and work out which type you have. What might you expect?
- Visual field testing
- Retinal imaging : Fundus photography、Optical coherence tomography (OCT)
- Electroretinography (ERG)
