There is more to LHON than blindness

Introduction to Dr Staffieri and LHON

• Dr Sandra Staffieri is a clinical and research orthologist with several decades of experience in clinical pediatric ophthalmology, pediatric eye cancer, and genetic eye disease research.
• Dr Staffieri is interested in developing and implementing strategies that promote early diagnosis of eye disease and understanding how the patient or caregiver’s lived experience can inform changes to clinical practice.
• The focus of the research is on the patient and their voice, with the goal of understanding their experiences and perspectives.
• The presentation will focus on Leber Hereditary Optic Neuropathy (LHON), a type of mitochondrial disease that causes sudden painless loss of vision.

Understanding LHON

• LHON is caused by genetic changes in the mitochondria and is inherited along the maternal line, meaning that a woman’s sons cannot pass it on to their children, but her daughters can.
• Not everyone with the genetic change will develop the eye disease, and some may develop other non-ocular problems.
• There are three common mitochondrial changes in Australian families: 11778, 14484, and 3460.
• The main characteristic of LHON is sudden painless loss of vision that can start in one eye and progress within weeks or months.
• The initial vision loss is often most noticeable when trying to look at someone’s face, driving, or putting on makeup.
• LHON-related vision loss usually begins in a person’s teens or 20s, but it can occur in early childhood and later in adulthood.
• Males are affected more frequently than females, and there is no known definitive cure for LHON, although some people may recover some vision with no treatment at all

Visual impact of LHON

• A healthy eye has a retina that senses light, a macula for sharp and colour vision, and an optic nerve with blood vessels that supply oxygen and nutrients to the retinal cells, with the optic nerve typically having a healthy, fleshy pink colour.
• In contrast, an eye with LHON has a swollen and pale optic nerve, which significantly impacts the visual field, affecting both peripheral and central vision.
• A visual field test measures how well a person sees around them and in front of them, and for someone with LHON, the visual field can change dramatically over time, starting with an enlarged blind spot and progressing to central vision loss and extensive visual field loss.

LHON research and risk factors

• Research on 96 pedigrees or family trees found that the risk of losing vision for individuals with a LHON genetic change was 17.5% for males and 5.4% for females, significantly lower than the often-quoted risk of 50% for males and 10% for females.
• This study provides valuable information for counselling patients and family members but only tells part of the story, highlighting the need for further research to understand the full impact of LHON.

Qualitative research on LHON

• The difference between quantitative and qualitative research methods is important, with quantitative research providing numerical values and qualitative research offering a more nuanced understanding of the experiences and perspectives of individuals with LHON.
• A current research project aims to explore the experiences and perspectives of individuals with LHON, moving beyond numerical values to gain a deeper understanding of the condition.
• Research can be categorized into quantitative and qualitative approaches, with quantitative research focussing on counting and qualitative research focusing on understanding experiences.
• Qualitative research often employs methods such as interviews or focus groups to explore people’s experiences or beliefs, and the analysis involves examining what people say rather than using statistics or mathematical programs.
• In the medical field, taking a patient’s medical history is a crucial skill for health professionals, but it may not capture the full richness of a patient’s experience.
• Qualitative research can provide a deeper understanding of patient experiences, and it was this desire to know more about patient experiences that led to the exploration of qualitative research methods.
• Qualitative research has been used to study various conditions, including childhood glaucoma and retinoblastoma, and has provided valuable insights into the lived experiences of patients and their families.

The LHON lived experience study

• A study on Leber Hereditary Optic Neuropathy (LHON) was conducted to understand the experiences of individuals with the condition and their families, which revealed common themes such as delayed diagnosis, challenges with sudden vision loss, and the impact on family members.
• The LHON lived experience study was funded by the Mito Foundation and aimed to gather evidence to advocate for change and improve the care provided to individuals with LHON.
• The study was led by a team of experts, including the researcher, who assembled a team to conduct the study.
• A research study was conducted to understand LHON through the eyes of the LHON community, including those who had lost vision, those who might lose vision, mothers who were carriers, and their caregivers or partners.
• The study was designed in three phases: phase one involved focus groups with representatives from each group to establish an interview guide, phase two consisted of in-depth interviews, and phase three will involve generating a survey based on the main themes and sub-themes identified in phase two.
• In phase one participants were eager to share their stories, which underpinned their suggestions for the questions to be included in the interview guide.
• Phase two involved in-depth interviews, with 25 interviews completed so far, and the data will be analyzed to identify common and recurring themes and sub-themes.

Preliminary findings and themes

• The interview process started with an open question asking participants to describe their diagnostic journey, and most interviews took about 90 minutes, with 35 hours of interviews recorded so far.
• Preliminary results show that delayed diagnosis, being disbelieved, and being sent to psychiatrists or psychologists were common experiences among participants.
• Participants also reported receiving inaccurate information or being directed to the internet, which may or may not be trustworthy.
• Grief was a common theme, with participants describing the moment they realized their vision had disappeared or their diagnosis was confirmed as a turning point in their lives.
• The study aims to generate a survey based on the main themes and sub-themes identified in phase two, which will be circulated more broadly to the LHON community to assess the generalizability of the findings.
• The impact of vision loss can be devastating, causing initial despair and a sense of being imprisoned, but some people eventually develop a life-affirming perspective and acceptance after a long time of adjustment.
• Vision loss can change a person’s sense of self, and it’s essential for them not to be defined by their condition or disability, as it’s just something that happens to them, not who they are.
• People with vision loss often experience erosion of self-esteem due to being treated like a child or being spoken to in a way that shows a lack of understanding, emphasizing that they are not deaf or dumb, just unable to see.
• The visibility of their disability is a prominent theme, with some people preferring not to be seen as blind, while others want to advertise their vision loss as part of their identity.
• Some individuals fear developing vision loss like their family members, feeling like they’re carrying a grenade that might go off at any time, while others don’t worry about it as it’s seen as out of their control.

Impact of vision loss and support needs

• Maternal guilt is a pervasive issue, with no amount of reassurance from the child changing the feelings of guilt, and vision loss impacts everyone within the family.
• Access to support is crucial, with family being supportive, but there’s a desire for a comprehensive team of professionals, information packs, and resources to help the affected person and their family adjust to vision loss.
• Everyone’s mental health is impacted due to subsequent loneliness and isolation, but there’s a lack of funded support for the family, with some experiences with counselling being largely negative due to a lack of understanding and unaffordability.
• Some participants’ experiences with health professionals have been embarrassing and difficult, with insensitivity in delivering news and a lack of consideration for the implications of the diagnosis.
• A person’s experience with vision loss was exemplified by a pamphlet they were given after being told they were blind, which didn’t provide a full understanding of what it’s like to live with complete vision loss.
• The person’s grandfather was blind, and they thought they knew what it was like to be blind from observing him, but they later realized they didn’t fully understand through interviews with others who had experienced vision loss.
• During an interview, a participant demonstrated a behavior similar to the person’s grandfather, gently touching objects to navigate their environment, which highlighted the importance of firsthand experiences in understanding vision loss.
• Another participant described being scolded by a nurse for touching the back of her hand to check if a needle had been removed, and replied that her fingers were her eyes, illustrating a unique perspective on vision loss.

Further research and advocacy

• Research projects have shown that there is often more to learn about a topic than initially thought, and that participants’ voices and experiences are crucial in gaining a deeper understanding.
• A participant expressed gratitude for being heard and acknowledged the loneliness that can come with vision loss, highlighting the importance of listening to and amplifying the voices of those affected.
• The project aims to bring the findings to life and hopes to be a catalyst for change, with the support of the Mito Foundation and the participation of the LHON community.
• The researcher acknowledges the contributions of David Mackey, Lisa Kearns, and Joanne Mosen, as well as the research participants, and invites others from the LHON community to participate in the study.
• The study is still enrolling participants, and those interested can contact our Helpline for more information.