The Indian Organisation for Rare Diseases (IORD), in collaboration with L V Prasad Eye Institute (LVPEI) and Rainbow Children’s Hospital, marked World Rare Disease Day 2026 in the city with a focused scientific conference titled “Raise the Awareness – Rare Diseases.” This year, the organisers spotlighted rare diseases in ophthalmology, bringing much-needed attention to rare eye disorders.
Focused Theme on Rare Eye Disorders
Unlike previous years, which addressed rare diseases in general, IORD deliberately chose a specific theme for 2026. Prof. Ramaiah Muthyala, President and CEO of IORD, explained that patients with rare diseases have diverse needs, treatment pathways, and outcomes. Therefore, the organisation decided to concentrate on rare ophthalmic conditions to deepen awareness and scientific engagement.
He emphasized that rare diseases constitute a significant yet under-recognized public health challenge in India. Given the country’s large population, India has a substantial number of rare disease patients — a reflection of population size rather than disproportionate disease prevalence.
Report Release and Awareness Film Screening
During the conference, IORD released its Annual Report 2025. Additionally, the organisers screened an awareness short film titled “I Am Not Alone,” directed by filmmaker Mr. Muralidhar Indrakanti. Through these initiatives, the conference highlighted persistent gaps in diagnosis, genetic services, and comprehensive care for rare eye conditions in India.
Global Context and Growing Momentum
Rare Disease Day, launched in 2008 by Eurordis, is now observed in over 190 countries. Initially, the day aimed to raise public awareness about rare diseases worldwide. Over the past decade, IORD has actively conducted multiple awareness campaigns across India. However, Prof. Ramaiah pointed out that most such events traditionally approached rare diseases in a broad, generalized manner. This year’s focused theme marked a strategic shift toward condition-specific advocacy.
Need for Early Diagnosis and Strong Referral Systems
Dr. Muralidhar Ramappa, Head of the Center for Rare Eye Diseases and Ocular Genetics and Senior Faculty in Pediatric Cornea and Anterior Segment at LVPEI, called for greater awareness, earlier diagnosis, and stronger referral systems. He stressed that although individual rare eye conditions affect small numbers of patients, collectively they impose a substantial burden on children, families, and society.
Furthermore, he noted that delayed or missed diagnoses often lead to prolonged uncertainty and lost opportunities for timely intervention and counselling. As a result, children’s education, independence, career prospects, and overall quality of life frequently suffer.
Importantly, Dr. Ramappa clarified that not all rare eye diseases are purely genetic. Some arise from metabolic disorders, developmental abnormalities, inflammation, infections, trauma, or other systemic conditions. Therefore, clinicians must adopt a comprehensive and multidisciplinary evaluation approach.
India’s Rare Disease Landscape
Currently, India recognizes approximately 450 rare diseases as per listings by the Indian Council of Medical Research (ICMR). Globally, experts have identified nearly 7,000 rare diseases, many of which are associated with visual impairment. This data underscores the urgent need to strengthen diagnostic services, genetic counselling, and long-term care frameworks in the country.
CERED’s Pioneering Work
Experts at the conference highlighted the pioneering work of the Center for Rare Eye Diseases (CERED) at LVPEI, Hyderabad — the first dedicated center in India focused exclusively on rare systemic disorders affecting the eye. Under the leadership of Dr. Muralidhar Ramappa, CERED delivers high-quality care at affordable costs and provides free treatment for underprivileged patients. In addition, the center conducts awareness and outreach initiatives to expand its impact.
Prof. Ramaiah acknowledged that IORD had the opportunity to collaborate with CERED during its formative stages, strengthening institutional partnerships in the rare disease ecosystem.
Distinguished Participation and Scientific Deliberations
As per the press release, the conference brought together distinguished experts and dignitaries who enriched the scientific discussions. Among them were Dr. Dinesh Kumar Chirla, Dr. Gayatri K, and Dr. Anil Kumar Mandal, who delivered the keynote address. Leading experts from LVPEI, Rainbow Children’s Hospital, medical professionals, researchers, and rare disease survivors actively participated in the deliberations, thereby reinforcing the collective commitment to advancing care and awareness for rare eye diseases.