Pigmentary retinal dystrophy Save

Pigmentary Retinal Dystrophy: Symptoms, Causes and Diagnosis

Pigmentary retinal dystrophy is a rare genetic eye disorder affecting the retina. The retina is the layer of tissue at the back of the eye that senses light and sends signals to the brain to produce visual images. This disorder causes the retina to degenerate, leading to vision loss over time.

Symptoms

The symptoms of pigmentary retinal dystrophy usually begin in early adulthood and progressively worsen over time. The most common symptoms include:

1. Night blindness: difficulty seeing in low-light environments
2. Loss of peripheral vision: difficulty seeing objects to the side
3. Blurred vision: difficulty focusing on objects
4. Photophobia: sensitivity to light

Causes

Pigmentary retinal dystrophy is caused by mutations in certain genes that are involved in the normal function of the retina. In most cases, the specific genetic mutation is inherited from one or both parents. However, in some cases, the mutation may occur spontaneously without any family history of the disorder.

Diagnosis

A diagnosis of pigmentary retinal dystrophy is typically made based on a comprehensive eye exam and genetic testing. During the eye exam, the ophthalmologist will examine the retina and look for signs of degeneration. Genetic testing can identify the specific genetic mutation responsible for the disorder.

Conclusion

Pigmentary retinal dystrophy is a rare genetic eye disorder that causes progressive vision loss over time. If you experience any of the symptoms associated with this disorder, it is important to schedule an appointment with an ophthalmologist for a comprehensive eye exam and genetic testing.