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Frequently Asked Questions

Frequently Asked Questions content

Am I eligible for Target 5000?

Anyone with an inherited retinal degeneration is eligible for Target 5000. Inherited retinal degenerations, also called inherited retinopathies, refer to a group of often rare conditions in which defects in genes lead to photoreceptor cell death and associated vision loss.

If you are unsure as to whether you have an inherited retinal degeneration, please consult your eye doctor.

What happens at the first Target 5000 appointment?

In total, the appointment may take up to four hours.

  • You will be asked to sign a consent form indicating that you are a voluntary participant in the project.
  • You will be asked some questions about your condition and any other medical conditions.
  • You will also be asked about any family history of sight loss and if any family members are affected by similar or other sight loss conditions. This information is hugely important so that clinicians can try to determine inheritance patterns of conditions.
  • The clinician will perform a series of visual tests. This is very important because as well as finding out the genetic cause of the condition, we also want to compare this with what your current vision is like.
  • You will be asked to give a blood or saliva sample. The samples will be sent directly to Trinity College Dublin (TCD) and held securely for research-grade testing.

What happens after my appointment?

You will be asked to attend a follow-up appointment to establish the presentation of your condition over time. Follow-up assessments are an essential part of every individual’s clinical care and should be sought by every individual diagnosed with an IRD.

While such visits may be lengthy, a lot of valuable information can be collected to assess visual function and the status of your eye condition over time.

This is an important step to allow us to understand your condition more fully and allows us to gain insight as to how the condition presents among individuals with the same or different genetic mutations.

Dr Kirk Stephenson, a Fighting Blindness funded Clinical Fellow explains what to expect at a clinical appointment. Click here to watch the video.

How long will it take to get my genetic results?

Genetic testing for inherited retinal degenerations is highly complex, with more than 270 genes known to play a role. To put this into perspective, a single gene can consist up to 10,000 or more letters of DNA code.

As you can imagine, this generates a large volume of ‘genetic data’. Genetic experts and computational scientists must read through and interpret this data accurately to find what the underlying genetic cause of your condition is. Understandably, this can often take time to pinpoint the disease-associated mutation.

Unfortunately, it is impossible to predict how long it will take to find the mutation that causes your inherited retinal degeneration as this will differ greatly from person to person, depending on the gene involved. If you have a very uncommon mutation, this may take longer for scientist to identify.

Please know, every effort is being made to deliver results as quickly as possible.

What if the genetic cause of my condition cannot be found?

Genetic testing is in itself a complex process, made all the more challenging on account of the fact that not all genes associated with an IRD have been identified. Usually when a test is returned as negative, it simply means that there isn’t certainty around the potential disease-causing gene or that it hasn’t been identified yet.

However, recent advances have resulted in the discovery of new IRD-associated genes, meaning that genetic testing panels are better equipped to find a genetic cause or association for an IRD. On-going research efforts to identify more genes will greatly improve the chances of receiving a genetic diagnosis.

As part of Target 5000, all samples where the disease causing gene has not yet been identified, are regularly re-analysed as new genes are discovered and research techniques advance and software tools are updated.

It is important to remember that genetic testing techniques and our knowledge of genetics is advancing rapidly. Therefore, even if a mutation cannot be found now, there is still a possibility that new techniques will enable scientists to find it in the future.

How will I receive my genetic test result?

Your genetic diagnosis will be delivered by a genetic counsellor. A genetic counsellor is a trained expert who can support individuals in understanding their diagnosis, provide information on the benefits, risks and limitations of the result, and advise on possible next steps.

You will have the opportunity to ask any questions you may have about your diagnosis at your appointment.

How can I receive an update on the status of my genetic testing?

If you have attended your Target 5000 appointment and would like an update on the status of your genetic test, you can request an update from the clinic you attended.

Alternatively, you can contact the Research department at Fighting Blindness who will also provide assistance.

Mater Misericordiae University Hospital (Dublin)
Prof David Keegan, Consultant Ophthalmologist
Secretary Phone: 085-7622956

Royal Victoria University Hospital (Dublin)
Dr Paul Kenna, Clinical Ophthalmologist
Secretary Phone: 01-6343630

Belfast Health and Social Care Trust (Belfast)
Ms Giuliana Silvestri, Consultant Ophthalmic Surgeon
Secretary Phone: 02890 637453 (00442890 637453 if ringing from Rep. of Ireland)

How can I get involved in Target 5000?

You can register for Target 5000 by contacting the Fighting Blindness research team on 01 6789004 or at target5000@fightingblindness.ie. You will be asked to provide some basic information including some personal details and details about your condition.

This will allow us to make a referral to the Target 5000 clinic. This information is confidential and handled in a manner compliant with GDPR regulations.

The Target 5000 clinic will contact you with details of your appointment.