Discover The Genetic Factors That May Lead To Retinal Diseases


Any eye doctor would tell you that the retina is a significant component when it comes to vision. It contains millions of light-sensitive cells and receives visual information, which will then be sent to the brain through the optic nerve. This process enables a person to see the world around them. Therefore, one can understand how impactful retinal diseases can be and the devastating consequences they could cause. In serious cases, it could cause a total loss of vision. Recent studies have shown that genetics may be one of the most significant factors that lead to the development of this condition. In this blog, we will explore this. 

What are retinal diseases?

It is a term given to several issues that affect the retina. The most common ones are as follows.

Retinal Tear – Occurs when the clear gel-like material in the center of the eye (vitreous) shrinks and pulls the thin tissue that lines the retina with enough force to tear the membrane. It occurs suddenly and is accompanied by symptoms such as seeing floaters and flashing lights.

Retinal detachment – It happens when there is fluid under the retina. It occurs due to tears that allow fluid to seep underneath the retina and build up, causing it to lift the part away from the tissue.  

Diabetic retinopathy – Diabetes can cause the blood vessels in the eye to deteriorate and leak fluid under the retina, causing it to swell and distort vision. 

Macular hole – It is a defect that occurs in the center of the retina and is caused by either injury or abnormal traction between the retina and the vitreous. 

Stargardt disease – In this condition, the retina’s center starts deteriorating, causing blurred vision or blind spots.  

Retinitis pigmentosa – A genetically acquired degenerative disease that slowly affects the retina, causing a loss of night and peripheral vision.

Leber congenital amaurosis – It is an eye disorder that mainly affects the retina and is typically present since birth. It causes sensitivity to light, involuntary eye movement, and extreme farsightedness, among other symptoms. 

How does the genetic factor lead to this disease?

While factors such as injury or trauma can cause certain issues in the retina, the most prominent one remains genetics. Most retinal diseases are genetic disorders and thus affect the DNA. The latter is hereditary information provided by parents to a child. Genes are segments of this that contain code for particular proteins present in one or more types of cells in a person’s body. Suppose there is a flaw in a gene. In that case, it will be unable to function properly and will lack the necessary proteins, causing the retina to deteriorate. 

There are more than 260 different genes that are known to cause retinal diseases. Some gene mutations can cause more severe forms of this condition than others. Scientists have linked more than twenty genes to Leber congenital amaurosis alone.

How can it be treated?

Knowing which gene is not working properly allows doctors to provide an accurate diagnosis to the patient and direct them to eye clinics for treatments such as surgeries and laser procedures. They could also be referred to clinical trials for therapies that could save their eyesight.

Gene-specific treatment has been clinically tested and is shown to stop the development of these inherited conditions effectively. Luxturna is an FDA-approved gene therapy that can be used for retinal diseases with a strong genetic component. It is also approved in the EU.

Retinal diseases can affect individuals of all ages. And while the presence of a gene may not indicate that the disease will certainly occur in descendants, it does increase the chances of developing them. Therefore, if a person has a family history of these conditions, it is best to visit New Vision Eye Center and consult a specialist. 

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