Published: April 2025. Next review: 2030.
This information guides ophthalmologists and clinical geneticists through the pathways of diagnosis or referral to the ocular genetics multidisciplinary team and gene therapy.
Inherited retinal disease (IRD) covers a group of genetic disorders that cause problems with the retina, leading to its dysfunction and degeneration. These conditions often cause progressive vision loss and blindness. People with IRD need specialised care because:
- diagnosing IRD is challenging and often requires specialised eye investigations and genetic testing to understand the diagnosis, prognosis and inheritance
- a specific genetic diagnosis of IRD is crucial to provide families with accurate information about recurrence risks
- accurate clinical and genetic diagnosis is required to access clinical trials and the increasing possibility of gene therapies.
The pathways include information about how to refer to the ocular genetics multidisciplinary team (OcularGen MDT) meetings that discuss:
- complex cases
- genetic variants of unknown significance
- Luxturna® gene therapy.
