Retinitis pigmentosa, a genetic vision pathology

Every last Sunday of September is celebrated the International Retinitis Pigmentosa Day, one of the rare and genetic diseases of the retina. Aware of the complications that the disease can bring, from Oligofastx we work together in the research and development of solutions based on the development of oligonucleotides to reach an effective treatment.

This rare disease is characterized by early and progressive degeneration of retinal cells, mainly photoreceptor cells: rods and cones, which convert light into signals that are transmitted to the brain.

It is estimated that 1 in 3,000 – 4,000 of the world’s population suffers from retinitis pigmentosa, and it is the leading cause of total blindness. With a world population currently estimated at more than 7.74 billion people, it can be estimated that approximately 1.94 to 2.58 million people worldwide suffer from one of these disorders. In Spain alone there are an estimated 15,000 cases.

It is, therefore, a rare disease, but one that affects a significant number of people in the population.

A genetically transmitted disease

It is a disease that is generally hereditary and is transmitted through one or both parents. However, although very rarely, it can evolve spontaneously from a DNA miscoding (mutation) during cell division.

Genetically, the transmission of this retinal dystrophy follows different and complex patterns of inheritance:

  • The dominant pattern: affects all generations of a family.
  • The recessive pattern: affects alternating generations. While one generation may be affected, the next may be a carrier.
  • From the X chromosome: females are carriers, while males are affected.

The genetic mutation is latent from birth. However, retinitis pigmentosa may begin to show the first symptoms in adolescence. The slow but continuous loss of vision it causes regularly affects both eyes, although unevenly and usually slowly. The speed of progression of the disease and its severity is variable, depending on the mutation and the individual’s genetics.

The most frequently experienced symptoms include altered color perception, decreased visual acuity, glare, reduced peripheral visual field or night blindness.

Retinitis pigmentosa cannot be prevented because it is of genetic origin. However, detecting it in its earliest form makes it possible to anticipate the development of the disease and to carry out a good control in order to combat possible future problems.

In addition to the clinical diagnosis, performing a genetic diagnosis to determine the molecular cause of the disease is useful to recognize a pattern of inheritance and to find out what is the probability of transmitting it. This would make it possible to alert carrier relatives and affected family members who may develop the disease in the future.




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