Uncommon ophthalmology - Care for the rare.

“She had blue skin,

And so did he.

He kept it hid

And so did she.

They searched for blue

Their whole life through,

Then passed right by-

And never knew.”

– Shel Silverstein

Rare diseases are a group of poorly understood and identified predominantly heritable heterogenous multi-system disorders with an adverse impact on the quality of life and survival. The World Health Organization defines rare diseases as those with an incidence of less than 1 in 1000 population.[1] The minimum critical prevalence threshold to define a rare disease, however, varies across countries – 1 in 2000 in the European Union and Canada, a population prevalence of < 200,000 (about 6.4 in 10,000) in the USA, 1 in 2500 in Japan and India and 1 in 10,000 in Australia.[1] There are over 7000 rare diseases, with over 300 million affected globally, over 70% genetic and 70% of these manifesting in childhood.[2] Rare diseases being chronic and disabling, severely impact life expectancy and the quality of life, impair physical and mental abilities, limit social and economic opportunities, and potential for optimal education, and livelihood. Called “health orphans”, patients with rare diseases face diagnostic delays and limited access to affordable medical care; over 90% of rare diseases do not have a FDA-approved treatment. India has chimed in late but now has an established rare disease registry and a national policy in place.[3]

There are over 900 diverse rare eye diseases (RED), over half of them with visual impairment and systemic overlays. (Table 1 online supplementary material) provides a curated list of RED. An organized approach to optimize the comprehensive care of RED involves several sequential and logical steps – 1. Creation of a robust data set to identify the prevalence and establish the baseline epidemiological data and a perpetual RED registry, 2. Identification of medical facilities to diagnose and comprehensively manage ophthalmic and systemic manifestations of RED, 3. Establishment of diagnostic and genetic testing facilities, 4. Consolidation of diagnostic, treatment, and visual rehabilitation centers into a seamless network, 5. Public and physician awareness, 6. Augmentation of governmental and organizational support with workable legislation support, and 7. Exploration for gene-based diagnostics and therapeutics and 8. Routes for primary, secondary, and tertiary prevention.[45]

This issue of the Indian Journal of Ophthalmology (IJO) is dedicated to RED and brings forth well-curated and consolidated information in the form of review articles, original research articles, and well-illustrated case reports. This endeavor is in collaboration with the Women Ophthalmologists Society of India. We sincerely hope that the RED special issue of IJO may help create the much-needed awareness among ophthalmologists about the true burden of RED, help them readily suspect and diagnose a patient with RED and channel them through to the best possible treatment protocols, ultimately optimizing the overall care and quality of life of such patients.

“A disease may be rare, but hope should not be”

Curated list of rare eye diseases