Retinal Degeneration: Properties And Treatment

Retinal degeneration actually consists of a group of diseases that share a genetic modification that modifies retinal light reception. The cells of the fundus progressively weaken as the disease progresses.

It is a rare disease that affects one in 3,000 people. However, it is the most common disease in this group, given all the dystrophies that pass from parents to children. What causes retinal degeneration? Continue reading to learn more about this topic.

Causes of retinal degeneration

Retinal degeneration is a genetic and inherited disease. This means that it is passed from parents to children due to a gene mutation. The disease is made up of several different diseases, as researchers have already identified thousands of changes in DNA (deoxyribonucleic acid) that culminates in the form of retinal degeneration.

Finding the origin of the disease is possible in about a third of cases. It is undoubtedly genetic, but in such patients it is impossible to find cell-creating changes.

Its heredity is classified into three groups according to variability:

• X chromosomes. In such cases, only men have symptoms, while women are carriers but never get the disease. Unfortunately, they pass the disease on to their boys.
• Dominant infection. This means that the gene in question always appears. All generations in the same family end up losing their sight when they get this mutation of the retinal degeneration.
• Recessive infection. Unlike the infection mentioned above, this gene does not always appear, so a parent may have symptoms, but their children may not. Their grandchildren, in turn, may have symptoms.

Retinal degeneration: what are the symptoms associated with the disease?

This disease has uniform symptoms that are common to all patients – despite various mutations. The first symptoms often appear during adolescence.

Retinal degeneration develops gradually, leading to vision loss. However, vision loss is not always the same. The most common forms are:

• Mixing colors. This is similar to color blindness. Patients mix one color with another or do not recognize the color as such.
• Loss of central vision. This vision is used most for tasks that require a close-up focus. Reading becomes difficult if the patient loses this ability. It is associated with the area of ​​the retina that first suffers from this disease. This symptom is usually confused with farsightedness – especially if the person is over 40 years old.

• Pipe vision. This is the opposite of the previous process. In this case, the  patient loses the ability to distinguish shapes and colors in the peripheral areas of the visual field. So he can only see things in the middle and really close. The name “tube vision” comes from the feeling that people who suffer from it experience. It is not unique to retinal degeneration, and thus is often confused with other diseases.
• Impaired ability to see in the dark. This is one of the most common manifestations and one of the most directing symptoms to make a diagnosis. This means that the patient sees normally during the day, but becomes almost blind at night or when the lights are off.

Retinal degeneration: diagnosis

Your doctor may first suspect retinal degeneration. He has an assumption if the disease occurs in the patient’s family. However, the task becomes more difficult if there is no previous entry in the information of the parents or grandparents.

Your doctor will order a genetic test to confirm your symptoms. He analyzes the composition of genes to locate defective genes in order to explain the disease based on a blood test. 

He may also supplement the assessment with photolithography of the fundus as well as electroretinography, which measures the electrical activity of the retina. The latter consists of high-resolution photographs taken of retinal tissue.

Visual field testing is always performed by an ophthalmologist and is not part of the diagnosis. However, the proportion of the patient’s field of vision is useful, as the remaining field of vision makes it possible to determine how much progress has been made.

Treatment of retinal degeneration

There is no cure for retinal degeneration. Treatments are mainly aimed at reducing symptoms and slowing the progression of blindness in order to improve the quality of life of a patient with the disease. 

Adding the amount of vitamin A in the chemical form of palmitate has produced successful results. However, it is not clear whether this treatment is recommended and whether adverse effects of these concentrations pose a risk to other organs, such as the liver.

Doctors will also prescribe anti-inflammatory drops if disturbing symptoms such as itching, pain, dry eyes or redness occur. These drugs only bring relief to the symptoms and are not a method for chronic management of the disease.

In some cases, it is also possible to have surgery, such as if the disease is associated with cataracts. An artificial retinal implant is still the subject of research to determine its effectiveness.

The importance of prenatal counseling

Because retinal degeneration is an inherited disease, prenatal counseling is very important. Parents considering children should be aware of this if they have been diagnosed with the disease in question. There is no way to avoid it, but parents can take precautions.

Talk to your doctor if you suffer from eye symptoms or notice a decrease in vision. The ophthalmologist is able to perform additional tests to determine the problem.

We hope you enjoyed this article.