There are at least 280 genes potentially responsible for the onset of hereditary retinal dystrophies, diseases considered rare, the most common form of which, retinitis pigmentosa, affects about one in 3,000 people. There are many different forms of this disease and, for the first time, in Sicily it will be possible to undergo a test in a public facility that allows you to identify, case by case, the gene responsible for the disease. In particular, this opportunity will be offered by the ‘Piera Cutino’ Hematology Campus of the Ospedali Riuniti Villa Sofia Cervello in Palermo.
Liquid artificial retina restores sight to guinea pigs
by Matteo Marini
What are hereditary retinal dystrophies and how are they diagnosed
“Hereditary retinal dystrophies are genetic diseases that affect the retina, the sensorineural portion of the eye. They are caused by a DNA defect and have extremely variable symptoms, age of onset and progressivity “, explains Fabiana D’Esposito, ophthalmologist expert in molecular genetics and basic research at Imperial College Healthcare in London, Federico II University of Naples and the Villa Sofia-Cervello Hospital of Palermo with the Piera Cutino Foundation. “The diagnosis – adds Elena D’Alcamo, director of the Molecular and Biochemical Diagnosis Laboratory of the Franco and Piera Cutino Hematology Campus – starts from retinal imaging. The next step is the electro-functional tests, to investigate its malfunction and quantify it. Then molecular investigations are carried out to discover the responsible gene ”. The NGS (Next Generation Sequencing) method is used which allows to analyze a very large number of genes at the same time, to then interpret the results and correlate them to the patient’s clinical history.
Newborn screening: “Unblock the tariff decree”. The appeal of 69 associations
The importance of genetic testing
Just as the same disease can be caused by different genes, the same gene can cause many different diseases, making diagnoses and gene-disease correlations very complex. “Taking the tests therefore means unequivocally characterizing and defining the status of family members with great advantages”, underlines D’Esposito. Often, although not always, there is in fact a familiarity component for these pathologies, and there is the possibility of being healthy carriers of the disease, or of not showing symptoms but of being able to transmit it to children. Finding out if a child could be affected enables them to make decisions for their own life. From the point of view of prevention, for example, attention to the sun and not smoking is important.
The ophthalmologist replies
Questions about the eyes: retinitis pigmentosa, possible new therapies from algae
curated by Irma D’Aria
The test also allows patients to be entered into a database that can be accessed for potential recruitment for experimental or already approved therapies. Precisely for this reason, in the Piera Cutino center of the Cervello hospital, the molecular diagnostics service was activated to supplement clinical diagnostics. “These are pathologies that greatly affect the quality of life, because they generally arise between the ages of 35 and 50. For this reason being able to take the test in a region with a high incidence and where it was not possible before, if not privately, is important “, remembers Giuseppe Cutino, founder of the Piera Cutino Association:” The laboratories in Italy are very few, it is therefore an opportunity for the whole country “. The Foundation was born to deal with thalassemia, but later decided to also take an interest in other rare non-haematological diseases. “This change in mission – concludes Cutino – is due to the desire to better support the Campus and to be at the service of the many patients who struggle to find help”.
Thalassemia, patients sound the alarm: there is a shortage of blood
by Elisa Manacorda
