Many eye conditions can be passed down through generations due to genetic mutations. Hereditary eye disorders may have different manifestations, characteristics, and severity. While some are treatable, others may trigger progressive vision loss or blindness. Below is an in-depth look at some of the common hereditary eye conditions and how they are inherited.
Genetic Patterns
The patterns of genetic inheritance describe how genetic traits or disorders are passed down through families.
Understanding the patterns makes it easier to predict the likelihood of getting or passing on hereditary conditions:
Autosomal Dominant: One parent with the gene = 50% chance of inheritance.
Autosomal Recessive: Two carrier parents = 25% chance of inheritance.
X-Linked Recessive: Affects mostly males, passed by carrier mothers.
X-Linked Dominant: May affect both genders, but males are usually predisposed.
Mitochondrial Inheritance: Passed exclusively through the mother to all children.
We will use these genetic patterns later in the article, to explain how hereditary eye conditions work.
Most Common Hereditary Eye Conditions
We did our best to cover the most common and relatively rare eye problems which may be passed down.
Myopia (Nearsightedness) & Hyperopia (Farsightedness)
While environmental factors can worsen vision, studies show those with a family history of refractive errors are more likely to develop them.
Myopia, in particular, tends to run in families. The chance increases if both parents are nearsighted. Corrective lenses or laser surgery can manage these hereditary eye conditions.
Strabismus (Crossed Eyes) & Amblyopia (Lazy Eye)
Strabismus, where the eyes don't align properly, and amblyopia, where one eye fails to achieve normal visual acuity, can both have genetic links. Both are more prevalent in children than adults.
Strabismus affects around 2-3% of the population. About 30-40% of children with strabismus have a family history of the condition.
While amblyopia treatment is possible with early intervention, crossed eyes may require corrective surgery. Early detection can prevent long-term vision issues from strabismus and lazy eye.
Color Blindness
Color blindness, in particular - red-green color blindness (daltonism), is a genetic eye condition. It is passed down through the X chromosome, which explains why more men are colorblind than women.
Though color blindness doesn't typically affect visual acuity, it can pose challenges in everyday life. Tools like color-correcting lenses and eyeglasses can ease the lives of people with hereditary color blindness.
If you suspect you may be colorblind, take free online colorblind tests. If the results are either positive or indecisive, schedule an eye exam for an accurate medical diagnosis.
Glaucoma
Glaucoma occurs when high pressure inside the eye damages the optic nerve.
Open-Angle Glaucoma in Adults
Lifestyle factors contribute to glaucoma development, but genetics plays a major role as well.
People with a family history of glaucoma are at a much higher risk, particularly of the open-angle type which is the most common. The prevalence of open-angle glaucoma is about 1-2% in adults over 40.
Glaucoma can cause irreversible vision loss without on-time treatment. It starts with a loss of peripheral vision. Eye drops or surgery can slow glaucoma progression.
Congenital Glaucoma
Unlike adult-onset glaucoma, congenital glaucoma is one of the hereditary eye conditions that manifest early in life, often in infancy.
Congenital glaucoma is caused by improper development of the eye’s drainage system before birth. As a result, the increased intraocular pressure damages the baby's optic nerve.
This hereditary condition tends to be inherited in an autosomal recessive pattern. Early surgical intervention is crucial to avert vision loss.
RELATED: Eye Problems in Premature Babies
Inherited Macular Diseases (Central retina)
Age-Related Macular Degeneration (AMD)
Macular degeneration affects the macula, the section of the retina responsible for central vision.
Macular degenerations like AMDÂ usually affect older adults so age is the biggest risk factor. (As you may have guessed from the name). Despite this, studies show a family history increases the likelihood of developing it.
There are two types - wet AMD and dry AMD. The genetic component is strongest in some cases of wet AMD, where abnormal blood vessels grow under the retina. Thus causing rapid vision loss.
Around 10-11% of people over the age of 60 have age-related macular degeneration. Lifestyle changes and a healthy diet can theoretically reduce the risk, but there is no official cure for AMD.
Stargardt Disease
Stargardt disease is a form of juvenile macular degeneration. The hereditary eye condition manifests in childhood or adolescence and is characterized by progressive central vision loss.
Mutations in the ABCA4 gene cause the disease. It follows an autosomal recessive inheritance pattern.
Clinical trials are exploring gene therapies and treatments to slow the progression of Stargardt disease.
BEST Disease (Best Vitelliform Macular Dystrophy)
Best disease is another hereditary form of degeneration of the macula. The condition tends to begin in childhood or adolescence. The cause is mutations in the BEST1 gene.
The disease is inherited in an autosomal dominant pattern, so a person only needs one copy of the mutated gene to develop it. BEST disease results in a buildup of lipofuscin, a fatty substance in the cells of the retina.
While there is no cure, monitoring, and routine eye exams can make a difference.
Inherited Retinal Diseases (Peripheral retina)
Inherited Retinal Diseases are caused by genetic mutations that affect the retina’s light-sensing cells, leading to progressive vision loss. This group of disorders includes conditions like retinitis pigmentosa, Leber hereditary optic neuropathy (LHON), and cone-rod dystrophy. These diseases tend to be inherited and can manifest in childhood or later in life.
Retinitis Pigmentosa (RP)
RP is a group of genetic disorders that often starts with difficulty seeing in low light and progresses to tunnel vision or complete blindness.
Depending on the gene involved, the condition can be inherited in several ways - autosomal dominant, autosomal recessive, or X-linked patterns. Retinitis pigmentosa impacts approximately 1 in 3,000 to 4,000 people.
There is no cure for RP. Advances in genetic testing have made it easier to diagnose and explore potential treatments, including gene therapy.
Leber Hereditary Optic Neuropathy (LHON)
LHON is a rare genetic disorder. It primarily affects the optic nerves, leading to sudden vision loss, often in young men.
It is inherited through mitochondrial DNA, which means it is passed down from mother to child. The condition often begins with blurry vision, which progresses to central vision loss in one or both eyes.
While there is no permanent fix, treatments to manage symptoms and genetic counseling can help individuals cope.
Keratoconus
Keratoconus is a progressive eye disorder where the cornea thins and begins to bulge into a cone-like shape, distorting vision.
External factors, eye rubbing, and oxidative stress tend to contribute. However, there is strong evidence for the involvement of genetics as well. Keratoconus occurs in about 1 in 2,000 people globally.
Genetic studies have identified several mutations that may be linked to the disease. Early-stage management depends on corrective lenses, but advanced cases may require corneal transplants.
Congenital Nystagmus
Congenital nystagmus is a hereditary eye condition with involuntary eye movements. The uncontrollable eyeball flickering typically occurs from birth or early childhood.
Nystagmus can result from mutations in several genes, usually FRMD7. It can be inherited in an X-linked pattern, affecting males more often than females. The condition doesn't tend to worsen over time but can make it difficult to focus on objects.
Treatment options are contact lenses and surgery to reduce eye movements. Still, nystagmus doesn't have a 100% effective cure.
Aniridia
Aniridia is a rare genetic condition in which the iris (the colored part of the eye) is absent or underdeveloped. The hereditary eye condition can impact both vision and the structure of the eye.
People with aniridia tend to have light sensitivity, cataracts, and glaucoma. Mutations in the PAX6 gene often cause aniridia, following an autosomal dominant inheritance pattern.
Aniridia patients often need ongoing management of the secondary complications to preserve vision.
Congenital Cataracts
Congenital cataracts can be inherited. The clouding of the eye's lens may appear in infancy or early childhood.
The genetic mutations that affect the proteins in the eye lens contribute to cataract development.
Fortunately, cataract surgery is highly effective, with a success rate of over 98% in restoring vision​. It's also one of the most performed eye surgeries today.
Leber’s Congenital Amaurosis (LCA)
LCA is one of the rare hereditary eye conditions. Leber’s congenital amaurosis causes severe vision loss from birth or early childhood.
The cause of LCA is mutations in several genes responsible for retinal function. LCA can lead to symptoms like nystagmus (involuntary eye movement) and extreme photophobia.
While there is no cure, research into gene therapy is promising. Clinical trials are underway to restore or improve vision in people with hereditary LCA.
Achromatopsia
Achromatopsia is another rare inherited condition, this time, affecting the cone cells of the retina. The results are a lack of color perception, light sensitivity, and reduced visual acuity.
The cause is mutations in genes impacting the cone cells' function. The condition follows an autosomal recessive inheritance pattern.
Individuals with achromatopsia have difficulties perceiving colors and may also have nystagmus. Gene therapy trials are underway to explore potential treatments.
If we missed any hereditary eye conditions you believe should be added, please use our contact form to submit a suggestion. Our ophthalmologist will consider your request to expand this article.
Other Hereditary Conditions Causing Eye Problems
Albinism
Albinism is a rare genetic condition we associate with a lack of melanin production, impacting skin and eyes. Ocular albinism can lead to poor vision, light sensitivity, and involuntary eye movements (nystagmus).
As a hereditary eye condition, albinism is inherited in an autosomal recessive pattern. Meaning both parents must carry the gene.
While albinism doesn't cause progressive vision loss, it can impair the quality of life, requiring special visual aids and sun protection.
Marfan Syndrome
Marfan syndrome is a genetic disorder of the body's connective tissues. It's not an eye condition but it leads to complications in various organs, sometimes the eyes.
One of the typical eye issues associated with Marfan syndrome is ectopia lentis, where the eye lens dislocates. Individuals with Marfan syndrome are also prone to develop glaucoma and retinal detachments.
Genetic testing and regular monitoring can manage the eye-related complications of Marfan syndrome.
Bardet-Biedl Syndrome
On the topic of rare genetic disorders disrupting how various body organs work, we have to mention the Bardet-Biedl syndrome (BBS).
The eye-related symptoms of BBS often include retinitis pigmentosa, night blindness, and peripheral vision loss. Eventually - central vision loss. Two copies of the mutated gene are needed for the BBS to manifest.
Right now, there is no cure. BBS treatments focus on managing the symptoms and slowing the vision loss progression.
Managing Hereditary Eye Conditions
Don't skip your regular eye exams if you have a family history of these hereditary eye conditions. Eye checkups are crucial for detection and treatment before complications occur.
Wearing UV-400 sunglasses, eating a nutrient-rich diet, and maintaining a healthy weight, may reduce the risk of developing or worsening certain hereditary eye diseases.
Individual treatment varies with the severity and nature of the genetic eye condition. Please consult your eye doctor for specific treatment recommendations.
In Summary...
Hereditary eye conditions have a huge impact on vision and one's quality of life. Even if you have genetic predispositions, with the right treatment and constant monitoring, in most cases you can lead a normal life. Take the time to know your family’s eye health history to manage risks effectively and take steps to preserve your vision.
By staying informed and proactive, people with hereditary eye conditions lower their risks and better their eye health outcomes.
Resources:
Glaucoma: Family Inheritance?, Glaucoma Research Foundation
Age-Related Macular Degeneration (AMD), National Eye Institute
Keratoconus, Johns Hopkins Medicine
Childhood cataracts, NHS
Infantile Nystagmus, American Academy of Ophthalmology
Retinal Dystrophies, StatPearls, National Library of Medicine
Leber’s Congenital Amaurosis, Cleveland Clinic
Aniridia, EyeWiki
Albinism, Mayo Clinic
What Is Marfan Syndrome?, American Academy of Ophthalmology
Bardet-Biedl Syndrome, EyeWiki
Amblyopia, Ochno Zdrave - Bulgarian Eye Health Portal
✅ Medically reviewed
Checked by Atanas Bogoev, MD.