May 25, 2021
The 21st of May will become the date when Portugal wrote its name in Ophthalmology Gene Therapy. Maria (let's call her that) is a 16 year old girl who, without this treatment, would have a strong chance of gradually losing her sight or even going blind.
This therapy started in the USA at the end of 2017. Countries such as France, Italy, Spain, Germany, Switzerland, the Netherlands, the United Kingdom, Australia or the United Arab Emirates have already carried out this innovative treatment. Others, such as Belgium, will start in June. Portugal joins the list of countries that already guarantee this treatment for one of the several hereditary retinal dystrophies. These are rare, genetically based eye diseases that evolve into very serious vision loss or even blindness and affect approximately 1 in every 3000 people. Until now, no treatment was available in Portugal. This innovative treatment (applicable only to patients with retinal dystrophies associated to the RPE65 gene) has so far only been carried out in around 200 people worldwide.
Almost two hundred people have seen improvements in light sensitivity, visual field and ability to walk in low-light environments. Our hope is that Maria's story will join these success stories.
It is therefore time to congratulate João Pedro Marques (Coordinator of the Portuguese Society of Ophthalmology (SPO) Ocular Genetics Group and ophthalmologist responsible for the International Reference Centre for Diagnosis and Treatment of Hereditary Retinal Dystrophies based at the Coimbra Hospital and University Centre) who last Friday led a pioneering team; in his own words: "the treatment of a patient with this therapy implies a highly differentiated training carried out by the Hospital Pharmacy and the surgeons, for the handling, preparation and administration of the drug. Intraocular surgery takes place under general anaesthesia and culminates with the subretinal administration of the product. The drug contains genetic information within a viral envelope and its introduction into the patient's retina allows the deficient protein to be produced, with improvements in the patients' visual function."
The aim is that the disease does not progress any further and, if possible, that Maria gains more independence; Maria's right eye has already been operated on; surgery on the left eye is scheduled for the end of this month.
It is worth pointing out that this breakthrough occurred in the same week that marked the International Day of Clinical Trials; there are now clinical trials already at an advanced stage for other genes associated with retinitis pigmentosa (e.g. RPGR), Usher syndrome, achromatopsia, choroideremia - all names that, for the reader, may seem too confusing but that, in general, translate into pathologies that reduce the quality of life of thousands of people, with irrecoverable losses if associated with a severe visual deficit.
The Portuguese Society of Ophthalmology welcomes the first genetic treatment in an ocular disease carried out in Portugal, undoubtedly a remarkable milestone for Portuguese Ophthalmology.
Our eye health must always be considered a priority: in a world dominated by images and colours, it is fundamental that no one is left without answers - Portuguese ophthalmologists, by entering in the front line of the best Ophthalmology practices in the world, are to be congratulated with this achievement.
From this milestone we are sure that soon we will be able to treat more Marias.
By: Prof. Rufino Silva, SPO President
