Leber Hereditary Optic Neuropathy (LHON), is a rare genetic disease that causes vision loss making it difficult to recognise faces, read text and distinguish colours. Most people with LHON are considered legally blind.

There is much we still don’t know about LHON. But two critically important questions remain:

1. Why don’t all people with the LHON genetic risk lose their vision?

2. Are there factors which may increase or decrease the chance of LHON vision loss?

To develop effective treatments or prevent vision loss, it is vital to understand genetics, environment and other factors that could trigger vision loss. It has been suggested that genetic changes can impact measurements of blood cell size. These measurements are made during routine blood tests such as a Full Blood Count (FBC), also known as Complete Blood Count (CBC). This test looks at the number, size and type of different blood cells in the body.

Most people will have had a FBC since it is a common test used to screen, help diagnose and monitor a variety of health problems.

This research study will look at whether differences in blood cell size may explain why some people with the LHON genetic risk lose vision and others don’t.

If you agree to participate, we will ask you to:

1. Complete the online consent form and provide your email address and telephone number.

a) Your email is collected so that you can receive an electronic copy of the Participant Information and Consent form with your consent preferences. Your email will also be used to forward you a copy of overall study results should you like to receive.
b) Your telephone number is collected in case of undeliverable email address.

2. Complete the survey, which will include the following questions

a) General information- e.g., age, gender and country of residence.
b) Whether you have LHON-related vision loss. If so, your age at the time you lost your vision and whether this was both eyes together or right/left eye first.
c) Your specific LHON genetic change (if known). E.g., 11778mtDNA, 14484mtDNA or 3460mtDNA
d) Whether you have a family history of LHON and the relationship to you. e.g., son, daughter, brother, sister, parent, grandparent etc.

3. Upload an electronic copy of your full blood count report to the online survey platform.

We ask you to please “crop” or “delete” your name, DOB, medical record number and any other personally identifiable information before uploading your report. Should you require assistance, you may ask a relative, friend, or care-giver. If you do not have a copy of your full blood count report, you can download a letter to take to your local doctor to obtain your report, and upload via a secure unique link. The size of blood cells remains unchanged. Therefore, it does not matter how long-ago the blood test was done.

This online survey should take less than 10 minutes to complete.

By completing the consent form, your first and last name will be recorded. Any other personal information you provide will be kept strictly confidential. To protect your privacy, information about you will be given a unique study number, accessible only by the researchers associated with this study.

Any information you provide is stored securely; only de-identified information about you will be used in the study.

For the purposes of this study, information that may be incidentally located on the blood count report (e.g., your Medicare number, DOB or contact details), will not be recorded or stored. Your email address will not be used in any report that is published or provided to any other people.

All electronic blood count review reports, consent form and information about you will be kept as a password-protected electronic document on an access restricted computer at the Centre for Eye Research Australia.

We may need to share de-identified information with research colleagues in Australia or overseas to complete specialised analysis for this study. Any information about you will be de-identified before we share it.

We will only collect and use your personal and health information as described. We can only disclose information with your permission or by law. You have the right to access or correct the information we collect and store about you. This is in line with relevant Australian and/or Victorian Privacy and/or laws.

We will also ask you to consider allowing your health information collected as part of this study to be used in future ethically approved research studies. Any information shared would have your personal information removed (de-identified) and replaced with a unique study code.

We will not provide your individual study results to you. However, if you would like to receive a newsletter about the overall study results, you can provide your email address. Information in any newsletters will not identify you.

You will not directly benefit from being a part of this study. However, your involvement may help eye doctors and researchers better understand LHON and be able to provide more accurate information to people about their chance or risk of losing vision from LHON. Understanding triggers for vision loss may help prevent vision loss or develop a cure.

We understand that recalling experiences​ about LHON can be difficult, stressful, or upsetting to talk about. If you become upset or distressed because of your participation in the research project, the research team will help guide you to appropriate support services.

You can change your mind about participating at any time. If you decide to withdraw from the project, please contact a member of the research team. You will be asked to complete and sign a ‘Withdrawal of Consent’ form provided to you by the research team.

​​If you decide to withdraw, the researchers will not contact you again, although information already collected will be retained to ensure that the results of the research project can be analysed properly. You should be aware that information collected up to the time you withdraw will form part of the research project results. All information collected will remain confidential and you will not be able to be identified. If you provided an email address this will be deleted from our study database.​

Once the study is finished, we expect to present the results in a variety of forums. e.g., publish in medical journals, circulate in a newsletter, present at medical conferences and public forums. All responses will be de-identified with the unique study ID so that any personal information will remain completely confidential.

This research project is being conducted by Ms Lisa Kearns and Dr Sandra Staffieri at the Centre for Eye Research Australia under the direction of Professor David Mackey from the Lions Eye Institute in Perth, Western Australia.

No member of the research team will receive a personal financial benefit from your involvement in this research project (other than their ordinary wages).

All research in Australia involving humans is reviewed by an independent group of people called a Human Research Ethics Committee (HREC). The ethical aspects of this research project have been approved by the Royal Victorian Eye and Ear Hospital Human Research Ethics Committee.

This project will be carried out according to the National Statement on Ethical Conduct in Human Research (2018). This statement has been developed to protect the interests of people who agree to participate in human research studies.

If you want any further information about this project or if you have any problems which may be related to you or your child’s involvement in the project, you can contact the Researchers below via email and then we can arrange a follow up phone call to discuss further:

Researchers

If you have any complaints about any aspect of the project, the way it is being conducted or any questions about being a research participant in general, then you may also contact:

Reviewing HREC approving this research and HREC Executive Officer details

Local Governance Office contact