4 days ago
Inherited retinal diseases (IRDs) are genetic conditions that typically cause vision loss in working-age adults, representing a unique hidden disability characterised by variable progression rates.
In a research report published recently in the Disability and Health Journal, “Navigating a hidden disability – Lived experiences and challenges of adults with early stage inherited retinal diseases“, (Bekir et al, 2025), it was highlighted that individuals with IRDs face complex, often invisible personal and social challenges beyond vision loss, underscoring the need for greater awareness, targeted support, and broader societal understanding of hidden disabilities.
Retina Australia’s Chair, Leighton Boyd AM, Company Secretary, Rosemary Boyd OAM, and Director, Dr Ceecee Britten-Jones were contributing authors on this research paper.
Research Report Summary
Research Objective
To explore the lived experiences of adults in the early stages of living with an IRD, when vision loss is not visibly noticeable.
Research Method
- Semi-structured interviews were conducted with 15 individuals (average age of 37 years old), all diagnosed within the past 10 years.
- Thematic analysis was used to identify key themes.
Key Findings – 5 themes
1. Adapting to the Diagnosis
“The journey can be harder than the actual disease”
2. Coming to terms with an IRD diagnosis is emotionally challenging and often more difficult than the physical symptoms.
- Daily Obstacles
- “Accepting what I have, adapting where I can”
3. Participants had to make constant lifestyle and behavioural adjustments as vision changes.
- A Roller-Coaster of Emotions
- “I feel like I’m not in control of the journey”
4. Emotional burden was significant, driven by uncertainty and the progressive nature of the disease.
- Navigating Society
- “It’s invisible, so people forget”
5. The hidden nature of IRDs led to misunderstanding and lack of empathy from others.
- The Road Ahead
- Finding identity within uncertainty
- People struggled with redefining their identity and future in the face of unpredictable vision loss.
Key Conclusions
- IRDs are more than just vision loss — they bring emotional, social, and cognitive challenges, especially in early stages when the condition is not visibly apparent.
- The “invisible” nature of IRDs intensifies difficulties in navigating work, relationships, and social settings.
- This emphasises the need for greater societal awareness and tailored, person-centred support systems.
Suggested Support Areas
Clinical & Diagnostic Support
- Tailor support to individuals’ functional needs and psychological readiness.
- Include parents and carers in the support process.
- Introduce low vision rehabilitation and assistive technology training early.
- Train clinicians in compassionate communication.
- Provide ongoing resource packs post-diagnosis.
Multidisciplinary Networks
Encourage collaboration across:
- Optometrists, ophthalmologists, and geneticists
- Genetic counsellors, therapists, and psychologists
- Patient organisations, support groups, and research teams
Psychological Support
- Offer individual/family counselling.
- Design programs specific to genetic and psychosocial complexities of IRDs.
Peer Support
- Strengthen peer-to-peer networks.
- Encourage sharing of personal stories and coping strategies.
Community Support
Advocate for:
- Accessible transportation across regions.
- Educational accommodations (e.g., technology, mobility training).
- Enhanced employment support services.
- Easier access to clinical trials and research opportunities.
Final note
This research highlights how IRDs are not just medical conditions but complex, hidden disabilities that require holistic, integrated support. Increasing awareness, fostering peer and clinical support, and improving systemic resources are crucial to improving quality of life for individuals in the early stages of vision loss.
