As a result of progressive degeneration of the retina, retinitis pigmentosa is a rare inherited eye condition. In this article, we explore the causes, symptoms, diagnosis, treatment, and prevention of retinitis pigmentosa, which typically begins in childhood or adolescence and worsens over time.
Causes
As a result of genetic mutations that affect the function and structure of the retina, retinal pigmentosa is mainly caused by genetic mutations. As a result of these mutations, the retinal cells, which sense light and transmit visual information to the brain, can degenerate, disrupting normal vision processes. Inheritance patterns can vary, with some cases inheriting in autosomal dominant, autosomal recessive, or X-linked patterns.
Symptoms
Retinitis pigmentosa symptoms vary with the severity of the disease. Common symptoms include:
-
One of the earliest signs of night blindness is difficulty seeing in low-light conditions or at night.
-
Vision that appears constricted or tunnel-like due to gradual narrowing of the visual field.
-
Blurred or reduced central vision affecting activities such as reading, driving, and recognizing faces.
-
Inability to distinguish between shades of light and dark: Reduced contrast sensitivity.
-
An increased sensitivity to bright lights or glare.
-
Having difficulty distinguishing colors, especially in dim lighting.
Diagnosis
An eye care professional will perform a comprehensive eye examination to diagnose retinitis pigmentosa. Diagnostic procedures may include:
-
An eye chart is used to measure the clarity of vision at various distances.
-
In order to diagnose tunnel vision or other abnormalities, the peripheral and central visual fields are mapped.
-
The electroretinogram (ERG) measures the electrical activity of the retina in response to light stimulation, which helps confirm the diagnosis of retinitis pigmentosa.
-
An optical coherence tomography (OCT) provides detailed cross-sectional images of the retina, allowing structural abnormalities and retinal thickness to be assessed.
Treatment
Currently, there is no cure for retinitis pigmentosa, but there are several treatments that may help manage symptoms and slow disease progression.
-
Aids for low-vision: Magnifiers, telescopes, and electronic aids can help people with retinitis pigmentosa maximize their remaining vision.
-
Clinical trials are currently being conducted on emerging therapies aimed at correcting genetic mutations associated with retinitis pigmentosa.
-
Those with severe vision loss due to retinitis pigmentosa may benefit from advanced prosthetic devices implanted in the retina.
Prevention
Retinitis pigmentosa can be prevented by:
-
To assess the risk of passing on the condition to future generations, individuals with retinitis pigmentosa or known genetic mutations should consider genetic counseling.
-
Maintaining a healthy lifestyle, including regular exercise, a balanced diet, and quitting smoking, may support overall eye health.
