Rare disease initiatives and eye health programs often operate independently. This creates siloes that result in rare eye diseases being overlooked in global health agendas. The two must be integrated to ensure universal care.
Rare eye diseases are often overlooked in global health agendas and remain underdiagnosed and underfunded. Photo: Andy William
Imagine waking up one day to find your vision slowly fading, the world around you narrowing into darkness. For 1.5 million people living with a rare eye disease called retinitis pigmentosa (RP), this is a daily reality. RP is a genetic condition that causes progressive vision loss due to retinal cell degeneration. There are over 900 such rare eye diseases, many linked to systemic conditions affecting multiple parts of the body. For example, thyroid eye disease, an autoimmune disorder, causes pain, eye bulging, and double vision, sometimes leading to sight loss. Similarly, Leber’s congenital amaurosis, caused by genetic mutations, leads to early and severe retinal degeneration, and accounts for 20% of blindness among children.
Despite their complexity, rare eye diseases are often overlooked in global health agendas and remain underdiagnosed and underfunded. One of the greatest challenges in addressing rare eye diseases is the siloed approach to healthcare. Rare disease initiatives and eye health programs often operate independently, missing critical opportunities for integration. This lack of coordination results in fragmented policies, funding gaps, and inadequate access to care.
For example, while rare disease frameworks may focus on genetic therapies, they often overlook the specific needs of patients with rare eye diseases, such as low-vision rehabilitation or surgical interventions. Rare eye diseases are often excluded from global health discussions, despite their significant impact. Global eye health-related policies and documents—including a recent WHO package on eye care interventions—usually discuss common eye conditions, while rare eye diseases, even when they are mentioned, are not usually categorised. This lack of visibility results in limited political will and insufficient investment in research, diagnostics, and treatment.
The human cost of rare eye diseases
Jane Cherry, who is from Geelong, Australia, was diagnosed with RP at the age of 32. She had no family history of this rare eye disease. The now 37-year-old’s symptoms began in her early 20s when she started having difficulty moving around at night. Jane had a hard time finding the right diagnosis as her symptoms were not properly examined and she was often misdiagnosed. It was almost a decade before she was diagnosed in an eye hospital after undergoing retinal scans. The journey was long and isolating, and few people in her life truly understood what she was going through.
The impact of rare eye diseases is significant; United Nations vision screening for World Sight Day. Photo: IAPB
Following the diagnosis, Jane received genetic counselling, which provided clarity, emotional support, and access to potential clinical trials. She is among the lucky ones to receive this rare privilege. While uncertainty about disease progression remains, Jane has now embraced life with resilience—she encourages greater awareness and empathy, and advocates for medical advancements to support those with rare eye conditions. Her story highlights the urgent need for earlier detection and patient-centred care.
The personal impact of rare eye diseases extends beyond sight loss. It affects education, employment, and mental health, trapping individuals in cycles of poverty and exclusion. Addressing rare eye diseases is critical to achieving the United Nations’ Sustainable Development Goals (SDGs), particularly SDG 3 (good health and well-being) and SDG 10 (reduced inequalities).
Advocacy on international platforms
IAPB is an overarching alliance for the global eye health sector working towards ending avoidable sight loss. Founded in 1975, IAPB has co-ordinated major global campaigns such as World Sight Day and led initiatives like 2030 In Sight, the UN Friends of Vision group, VISION 2020, and Vision for the Commonwealth.
Through our advocacy efforts, the UN General Assembly adopted the first-ever resolution on eye health, Vision for Everyone, in 2021, accelerating action to achieve the Sustainable Development Goals. This was reaffirmed at the UN Political Declaration on UHC, which includes eye health, and renewed in September 2023 with the Political Declaration of the High Level Meeting on UHC. Likewise, the World Health Assembly adopted the resolution on integrated people-centred eye care, including preventable vision impairment and blindness, and endorsed the targets for eye health to be achieved by 2030 (WHA 2021). These initiatives recognised eye health as a global public health issue and encouraged global action on eye health as an integral part of universal health coverage.
Momentum is building; United Nations General Assembly side event on the value of vision. Photo: IAPB
We are working to integrate rare eye diseases into broader health frameworks. This includes pushing for greater investment in research, improving access to diagnostics and treatments, and fostering collaboration between rare disease initiatives and eye health programs.
The need for a global response
We believe that everyone should have access to care that can restore the best possible vision for them, and that no one should lose their sight to a rare eye disease. That is why we are calling for a coordinated, global response to this silent crisis.
We call on governments and the global health sector to:
Integrate rare eye diseases into national health plans to ensure equitable access to care.
Foster collaboration between rare disease initiatives and eye health programs to address gaps in policy and funding.
Invest in research and innovation to develop affordable diagnostics and treatments for rare eye diseases.
Raise awareness about the impact of rare eye diseases, ensuring they are no longer invisible in global health discussions.
The global eye health sector is convening a Global Eye Health Summit in 2026, which presents a unique opportunity to address the neglect of rare eye diseases within the broader global eye health agenda. We urge governments, policymakers, and stakeholders to prioritise rare eye diseases, ensuring that these conditions are no longer overlooked.
The opinions expressed are those of the author and do not necessarily reflect the position of Re:solve Global Health.
Junu Shrestha is the policy and advocacy manager at IAPB. She leads the development and delivery of integrated people-centred eye care and works closely with WHO and IAPB members to facilitate its implementation in countries. This op-ed was written by Shrestha, with Moi Youn, IAPB Western Pacific regional development officer, supporting with literature reviews and collecting patient stories.
Comments