Inherited retinal disease (IRD) is a leading cause of visual impairment in Australia.

The Australian Inherited Retinal Disease Register and DNA Bank was established as a national resource in 2009. It contains clinical and family history information for over 6,200 participants affected with an IRD or their family members. It also contains DNA collected from over 4,700 of those participants.

The results of genetic analysis of that DNA (which may include the specific genetic mutation causing a participant's IRD) are also recorded in this resource, as they become available. As the molecular mechanisms leading to inherited retinal disease become more clearly understood, novel therapies are being developed which will in time prevent or ameliorate loss of sight and improve visual function.

The early establishment of an affected person's genetic status is vital if he or she is to have the opportunity to take full advantage of these emerging therapies. The Australian Inherited Retinal Disease Register and DNA Bank is actively used by clinicians and researchers to identify participants who may be suitable for emerging gene-specific clinical trials, to improve our understanding and treatment of inherited retinal diseases, and to facilitate clinical counselling of patients.

Please note: This resource is not applicable to Age Related Macular Degeneration.

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IRD Phenotype & Genotype