What is retinitis pigmentosa?
Also known as retinitis pigmentosa, retinitis pigmentosa is a group of degenerative and hereditary ocular pathologies characterized by a slow and progressive loss of vision.
This pathology mainly affects the retina, which is the layer that covers the inner part of the eye and is responsible for acquiring and sending images to the brain. When retinitis pigmentosa occurs, some of the retinal cells are gradually destroyed.
Retinitis pigmentosa belongs to the group of rare diseases and affects 1 in 3,000-4,000 people.
Prognosis of the disease
Retinitis pigmentosa is a degenerative pathology that leads to blindness, but few cases reach this point.
Retinitis pigmentosa belongs to the group of rare diseases.
Symptoms of retinitis pigmentosa
Symptoms of retinitis pigmentosa usually appear in childhood, but severe problems usually do not occur until early adulthood, so early diagnosis is very important. Main symptoms:
- Decreased night vision or vision in low light.
- Loss of peripheral (side) vision, which forces people to turn their heads to see what is around them.
- Decreased visual acuity, which causes difficulty in perceiving shapes and objects.
- Glare and photopsias, which involve the perception of lights or small flashes that hinder vision.
- Loss of central vision (advanced cases).
- Impaired color perception (advanced cases).
Medical tests for retinitis pigmentosa
Typically, the tests performed to diagnose retinitis pigmentosa are:
- Visual acuity and field study
- Study of the eye
- Dark adaptation tests
- Contrast sensitivity and color recognition
- Electroretinogram (ERG)
What are the causes of retinitis pigmentosa?
Retinitis pigmentosa can be hereditary, caused by various genetic defects. According to its inheritance pattern, we can differentiate three types of retinitis pigmentosa:
- Autosomal dominant: represents 1/3 of cases, and appears due to a mutation in a gene important in the structure or function of the retina. It affects men and women equally and can be transmitted from parents to children; an affected person has a 50% chance of transmitting the disease to his or her children.
- Autosomal recessive: it is the most frequent and is related to consanguinity. Carrier father and carrier mother have a 25% chance of having affected offspring.
- Sex-linked or X-linked recessive; caused by the presence of a defective gene on the X chromosome, it accounts for 10% of cases. It mainly affects males.
We speak of sporadic retinitis pigmentosa when it does not appear and none of the three cases mentioned above are present.
Can it be prevented?
Medical tests and genetic counseling can help determine if children are at risk for the disease.
Treatments for retinitis pigmentosa
At present there is no definitive cure for this pathology, although studies are being carried out to find a solution.
Which specialist treats it?
The specialist who treats retinitis pigmentosa is the ophthalmologist.