Ophthalmic registries for rare eye diseases

Abstract

The prevalence of rare diseases has been estimated to be around 6%–8%, most of which are genetic in origin. Rare eye diseases constitute a critical public health concern. The major concerns for people suffering from these conditions are diagnosis, treatment, rehabilitation, limited resources, and health infrastructure. Also, as the number of people suffering from these disorders is less, it becomes difficult to study the epidemiological distribution and natural course of the disease. Thus, there is a need to establish registries for such rare disorders. This will help in creating a database of those suffering from rare eye diseases and will prove advantageous for both the patients and the researchers. For patients, it will be helpful as it will provide them will access to families suffering from similar problems, provide rehabilitation services, and provide access to clinical trials working on the development of new treatments for these rare disorders. From the researchers’ point of view, it will be beneficial for them as they will then have access to a pool of data that can be used as a starting point of research on these rare disorders. At present, very few registries exist around the world and none in India. A systematic review of registries for rare eye diseases on Google and PubMed was done for existing registries, their methodology, services provided, applications, and advantages.

Comments on: Ophthalmic registries for rare eye diseases

“…We read with interest the systematic review by Sharma et al . [ 1 ] that highlighted the value of rare disease registries as important clinical and research resources to attain better patient outcomes. As the authors report, there are few rare eye disease registries: they identify a total of 26 registries, of which almost half are devoted to hereditary diseases.…”

“…We echo the call by Sharma et al . [ 1 ] to increase the number and scope of registries for rare eye diseases and applaud the efforts of the Women Ophthalmologists Society to establish the first rare eye disease registry in India.…”

Commentary: Rare eye diseases: More than meets the eye!

“…The authors have made an honest effort under the aegis of the Women Ophthalmologists Society of India to create awareness on the need of having an eye registry for rare diseases affecting the eye. [ 1 ]…”