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Genetic Eye Disorders: Symptoms and Treatments

Author: Ejones
Date: January 4, 2022
 Eye Disorder

Many types of eye disorders, including those that are the major cause of blindness in newborns, children, and adults, are influenced by genetic factors.

Inherited eye disorders are responsible for more than 60% of cases of blindness in newborns. Up to 40% of patients with certain types of strabismus (ocular misalignment) have a family history of the condition, and researchers are working to find the genes that cause it.

Genetics also plays a role in vision-related diseases that occur in otherwise healthy eyes. Researchers in the field of genetic ophthalmology now have proof that the most frequent visual disorders in children and adults are genetically determined. Strabismus (crossed eyes), amblyopia (lazy eye), and refractive defects including myopia (nearsightedness), hyperopia (farsightedness), and astigmatism are all on the list.


Glaucoma is an age-related eye condition that affects many people. It is the second leading cause of blindness in the world, after cataracts. Glaucoma can affect people of all ethnicities and genders, but it is more common as people get older. Glaucoma is more common among people who have a family history of the disease and those who have diabetes.

Glaucoma is a phrase that refers to a set of eye diseases that affect the optic nerve. It's the most prevalent cause of visual loss due to optic nerve damage. Glaucoma can also affect adults with normal eye pressure. Glaucoma, if left untreated or improperly managed, can result in permanent visual loss and blindness.

Symptoms Of Glaucoma

Common Glaucoma symptoms are:

  • Eye pain or pressure
  • Headaches
  • Rainbow-colored halos around lights
  • Low vision, blurred vision, narrowed vision (tunnel vision), or blind spots
  • Nausea and vomiting
  • Red eyes

How Is Glaucoma Treated?

Glaucoma that is left untreated can lead to permanent visual loss or blindness. Treatments can help to prevent further vision loss, but they won't be able to restore vision that has already been lost. If you suffer eye pain, severe headaches, or vision issues, you should consult your eye doctor straight once.

Glaucoma treatments include:

  • Eyedrops/Medication: Prescription eyedrops reduce fluid retention and promote outflow to relieve eye pressure.
  • Laser Treatment: Laser treatment can help improve fluid drainage from your eye.
  • Surgery: Another option for lowering ocular pressure is surgery. Surgery can help reduce the loss of eyesight, but it cannot cure glaucoma or restore lost vision.

Age-Related Macular Degeneration

Age-related macular degeneration (AMD) is an eye disease that affects central vision. AMD results from a combination of genetic and environmental factors. People suffering from AMD are unable to see people or objects directly in front of them. People over the age of 50 are more likely to develop this age-related eye issue. AMD patients aren't fully blind. They have good peripheral vision.

Although age-related macular degeneration appears to run in families in certain cases, it usually does not have a clear pattern of inheritance. At least one first-degree family (such as a brother or parent) with age-related macular degeneration affects 15 to 20% of patients with the disease.

Symptoms of Age-Related Macular Degeneration

Many people with age-related macular degeneration don't have symptoms until the disease progresses. You may experience:

  • Blurred (low) vision
  • Blank or dark spots in your field of vision
  • The appearance of waves or curves in straight lines

How Is Age-Related Macular Degeneration Treated?

AMD can't be cured. Early treatment can help to decrease the growth of the disease and lessen the severity of the symptoms. Even after effective therapy, symptoms of AMD frequently reappear. Treatment options vary depending on the type of disease:

  • Nutritional Supplements: Supplements like the combination of vitamins and minerals may slow the progression of dry AMD.
  • Anti-VEGF: Treatment with anti-VEGF (anti-vascular endothelial growth factor) for wet eyes AMD inhibits the synthesis of VEGF, a protein that aids in the formation of new blood vessels. This treatment can occasionally help you see better.
  • Photodynamic Therapy (PDT): It uses the combination of an injectable light-sensitive drug and a laser to destroy extra blood vessels in the eye.

Congenital Cataract

A cataract is a clouding of the eye's lens that can affect either one or both eyes. When a cataract forms on the lens, your eye loses the ability to focus light properly. This can result in hazy vision or visual loss.

Between 8.3% and 25% of congenital cataracts are thought to be caused by hereditary cataracts. Cataracts can also be a symptom of multisystem genetic disorders. In other circumstances, the line between the two is fuzzy. Inherited cataracts can be isolated in some people and can be coupled with other symptoms in others.

Symptoms Of Congenital Cataract

Common symptoms of congenital cataracts are:

  • Cloudy or blurry vision
  • Sensitivity to bright sunlight, lamps, or headlights
  • Glare while you drive at night with oncoming headlights
  • Double vision
  • Poor night vision

How Is Congenital Cataract Treated?

If the symptoms of cataracts are minor, you may only require a new prescription for glasses or contacts. Cataracts, on the other hand, frequently worsen over time. Your doctor will most likely propose cataract surgery at some point.

Optic Atrophy

Optic atrophy is a condition that affects the optic nerve, which carries impulses from the eye to the brain. Optic atrophy is a symptom of a potentially more serious ailment, rather than a disease. The disorder can lead to vision difficulties, including blindness.

A genetic alteration in the OPA1 gene causes optic atrophy type 1. The disease is passed down through the generations in an autosomal dominant pattern. To validate the diagnosis, genetic testing may be utilized.

Symptoms Of Optic Atrophy

The symptoms of optic atrophy relate to a change in vision, specifically:

  • Blurred vision.
  • Difficulties with peripheral (side) vision.
  • Difficulties with color vision.
  • A reduction in sharpness of vision.

How Is Optic Atrophy Treated?

Optical atrophy has no known cure or treatment. As a result, it's critical to get frequent eye exams, especially if you have a family history of this eye disorder, and to contact your ophthalmologist right once if your vision changes.


Strabismus (crossed eyes) occurs when the eyes do not line up with one another. In other words, one eye is directed in a different direction from the other. Patients with strabismus have problems with the control of eye movement and cannot keep normal eye positions.

Strabismus is frequently inherited, with roughly 30% of children with the condition having a family relative with the same condition. Both concurrent and incomitant strabismus exist. Concomitant strabismus, on the other hand, can be inherited as a complex genetic trait, and both genes and the environment are likely to play a role in its development.

Symptoms of Strabismus

In an older child or adult, the abrupt occurrence of strabismus, especially with double vision, could suggest a more serious neurologic condition. If this occurs, contact your doctor right away.

How Is Strabismus Treated?

Treatment options include the following:

  • Eyeglasses or Contact lenses: With corrective lenses, the eyes will need less focusing effort and may remain straight.
  • Prism Lenses: It can reduce the amount of turning the eye must do to look at objects.
  • Medications: Eye drops or ointments can weaken an overactive eye muscle. These treatments may be used with, or in place of, surgery, depending on the patient's situation.
  • Eye Muscle Surgery: Surgery changes the length or position of eye muscles so that the eyes are aligned correctly.

Retinitis Pigmentosa

Retinitis Pigmentosa is an inherited medical condition in which the retina of the eye begins to deteriorate.

Both eyes are frequently affected by retinitis pigmentosa. Vision continues to deteriorate in some instances of the disease. Other varieties of retinitis pigmentosa affect only a tiny portion of the retina, and vision may not alter for years.

Symptoms of Retinitis Pigmentosa

Someone with retinitis pigmentosa will notice gradual changes in vision, including:

  • Difficulty seeing at night
  • Loss of vision off to the side (peripheral vision)
  • A sensation of twinkling or flashing light

How Is Retinitis Pigmentosa Treated?

Unfortunately, there is no effective treatment for retinitis pigmentosa to prevent or cure it. Although research is ongoing, there is presently no experimental pharmaceutical or surgical treatment available. Regular eye exams and following the doctors' advice are the best ways to retain and use as much eyesight as possible.

People want eyecare and vision care affordable. So we are here to provide high-quality eye care.
K.S.R.T.C Complex, Payyanur
Copyright © 2020 Ejones Optical Centre | All Rights Reserved
People want eyecare and vision care affordable. So we are here to provide high-quality eye care.
K.S.R.T.C Complex, Payyanur
Copyright © 2022 Ejones Optical Centre | All Rights Reserved