The world marks Rare Disease Day on 28 February and one of these pathologies is pigmentary retinosis. It affects one in every 2,000 people and is the principal cause of total blindness. At present, there is no effective treatment available to combat it. As a result, the Barcelona Macula Foundation: Research for Vision is carrying out research projects aimed at overcoming eye diseases in the short and medium term.
Pigmentary retinosis is a degenerative and hereditary eye disease that causes a serious reduction in visual capacity and, in many cases, leads to blindness. It is characterised by the progressive loss of photoreceptors (apoptosis), above all in those of a rod type, and of the retina’s pigmentary epithelium due to mutations of its specific proteins and enzymes. A hereditary component is present in half the cases of pigmentary retinosis and the prognosis, together with its progression, may be related to this.
It is calculated that the number of sufferers in Spain exceeds 15,000 and some 60,000 people are carriers of the defective genes responsible for the disease. It generally appears in young people and the initial symptoms involve a difficulty in adapting to darkness and a progressive loss of the visual field.
On account of it being a genetic disease, it is especially recommendable to conduct a genetic study and early diagnosis in order to commence, without delay, a treatment that prevents the progression of the pathology. At present, there is no treatment for pigmentary retinosis despite the fact that the intense research being carried out worldwide gives room for optimism.
Dr. Jordi Monés, the ophthalmologist and Medical Director of the Barcelona Macula Foundation: Research for Vision, explains that his institution “is working to discover solutions and treatments for this disease and conducting clinical trials that enable new treatments to be researched”. He adds that “genetic diagnosis may prove very useful in estimating the risk of the disease and the prognosis for other relatives and descendants. “Optimism is the word that ophthalmologists like to use on having decided to commit themselves to international research in the fight against blindness.”
The Barcelona Macula Foundation: Research for Vision would like to join EURORDIS, the European Organisation for Rare Diseases in marking this World Day. This year’s campaign is “Living with a rare disease” in reference to the estimated 30 million patients in Europe. The campaign motto is “Day-by-Day, Hand-in-Hand”, which draws attention to the solidarity of patients, patients’ associations, relatives, doctors, researchers and many others. EURORDIS has created a video entitled “Raising and joining hands for Rare Diseases” that has been translated into 21 languages and which may be seen using this link.