Rare Disease Day 2024

Today marks Rare Disease Day 2024, a day for raising awareness for patients, families and carers that are affected by rare diseases. A disease is considered rare if it affects less than 1 in 2000 people, and being rarer means, among other things, diseases are harder to diagnose, study and provide care. The majority include genetic conditions, conditions that are caused by mutations to a person's genes that affect how they are expressed. 

These genetic diseases also can affect eyesight. Diseases such as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), Stargardt disease and Usher syndrome all lead to sight loss. Genetic eye diseases are amongst the leading causes of sight loss in working-age adults, and are largely untreatable, though ongoing research is seeking to find cures through genetic therapy, such as one particular variant of RP that is now available on the NHS. 

For Rare Disease Day, we spoke to Professor Mariya Moosajee, consultant ophthalmologist and head of the genetic service at Moorfields Eye Hospital, and professor of molecular ophthalmology at UCL Institute of Ophthalmology. Mariya is raising awareness of genetic eye diseases and explaining what services are available for patients diagnosed with them, including genetic tests and the potential to get involved in clinicial trials.  

You can watch Professor Moosajee on Youtube:

video transcript

For more information about genetics and inherited diseases, please visit:

  • Gene Vision - a resource on rare genetic eye disorders for everyone 




29 February 2024