An edifying video relayed by Novartis on the occasion of World Rare Diseases Day on February 28, plunges us into the daily life of a child victim of a rare ophthalmic disease: hereditary retinal dystrophy (HRD). Overview.
On the occasion of World Rare Diseases Day on February 28, Novartis is releasing an edifying video that provides a better understanding of the daily life of a child victim of rare ophthalmic disease, such as Hereditary retinal dystrophies (HRD).
Entitled “He who did not see the stars”, this animated film aims to present the symptoms characteristics of these diseases and to raise public awareness. Today in France, these HRDs concern more than 30,000 people in France. In the most serious cases, they lead to blindness.
“Hereditary retinal dystrophies (HRD) represent a group of rare diseases affecting the retina. These pathologies are due to the alteration (mutation) of genes (more than 250 to date) involved in the functioning and regulation of cells of the retina. progressive and gradual loss of vision which may progress to blindness, ”presents Novartis.
This phenomenon causes various symptoms, including night blindness. These are visual difficulties when the intensity of the light decreases.
A reduced peripheral vision must also alert. Patients see their visual field reduced. It becomes difficult for them to make out things at the top, bottom or sides, giving an impression of “tunnel vision”.
The dyschromatopsie is also a symptom. These are disorders of color vision, especially blue and yellow.
This type of disease is of origin genetic. Its appearance is determined by the genes inherited from the parents and is due to the presence of genetic changes that induce the development of dystrophy. To date, mutations in more than 250 genes have been identified.
Retinal dystrophies can be diagnosed by examining the fundus of the eye. For other cases, additional examinations will be necessary, whether it is imaging examinations such as autofluorescence or optical coherence tomography, or functional examinations such as electroretinogram or electrooculogram. .