Becoming a parent is an exciting and life-altering experience. But, for many mothers and fathers, the joy of expectation can be marred by the risks of congenital eye disorders.
It is heartbreaking for the parents to see their precious baby born with or develop vision difficulties after birth. The helplessness as they see the baby struggle can be overwhelming. But, this need not dishearten you. Understanding the challenges of congenital eye disorders is crucial so that you can support your baby as it figures out its vision. And we are here to help you through this journey.
Table of Contents
What Are Congenital Eye Disorders?
The word congenital has its origins in Latin. It is a combination of two words – Con, which means together, and genitus – which means born with. So, a congenital condition means something you are born with.
Congenital eye disorders refer to a group of eye conditions that affect the vision of newborns and young children. The children either have these disorders at the time of birth or develop them soon after birth.
Newborns might have congenital eye disorders in one or both eyes. The severity can range from mild to serious vision issues. Many times, these conditions are diagnosed much later in life, when their effect becomes very visible.
How Congenital Eye Disorders Affect Different Parts of the Eye
Congenital Eye Disorders of the Eyeball
Your eyeball is like a small round camera for processing the images. Congenital disorders can affect it’s size with a condition called Microphthalmia. Here, the newborn will have unusually small eyeballs. You could also be missing parts of the eye tissue due to a condition called Coloboma. Congenital eye disorder could also make the newborn have an incomplete or missing iris (The coloured part of your eye) in a condition known as Aniridia.
The Effect of Congenital Eye Disorders on the Eyelids
Our eyelids act as a curtain that protects our eyes. Congenital eye disorders of the eyelids might be in the form of Ptosis, where eyelids are droopy and only partially cover the pupil. Eyelids might also turn inwards in a condition called Entropian. This condition causes the eyelashes to rub against the eye. Coloboma is another disorder where there is a notch or gap in the eyelid.
Congenital Eye Disorders of the Eye Muscles
Our eye muscles are responsible for controlling the movement and focus of the eye. So, congenital eye disorders affecting the eye muscles can seriously constrain vision. One such disorder is the Strabismus, also known as wall-eye or cross-eye. In this disorder, eyes are misaligned. Congenital disorders might also cause involuntary eye movements, commonly called as the dancing eyes.
Optic Nerve Disorders Caused by Congenital Eye Disorders
Your optic nerve functions like a cable that sends visual information from your eye to the brain. Congenital eye disorders might cause underdevelopment of the optic nerves and cause Optic nerve hypoplasia, where your optic nerve is underdeveloped. Septo-optic dysplasia is another such disorder where
Brain Areas Responsible for Vision Affected by Congenital Eye Disorders
Congenital eye disorders do not always affect only your eye. These disorders can affect the parts of the brain where visual information is processed. This disorder is called cortical visual impairment. Another similar condition is Cerebral visual impairment which affects other brain areas along with the areas related to visual processing.
Causes of Congenital Eye Disorders
The exact cause of congenital eye disorders is not a straightforward one. The underlying reasons can be complex and varied. But, getting a basic understanding of these disorders will help us prepare better to manage them.
Genetic Factors
Some genetic conditions are passed down from parents to children, just like the color of the eye or the texture of the hair. These genetic conditions or mutations can disrupt the development of the eye structure and visual functions. For instance, genetic conditions like albinism, where lack of pigment leads to sensitivity to light or reduced vision. Another similar genetically inherited condition is Retinitis Pigmentosa. This group of inherited disorders can lead to vision loss or night blindness due to progressive degeneration of the retina.
Problems During Pregnancy
Certain issues like infections and nutritional deficiencies during pregnancy can cause congenital eye disorders. Infections like rubella or toxoplasmosis can affect the cellular development of the fetus or impair critical development processes in the womb. Deficiency of nutrients like Vitamin A or folic acid can negatively impact the development of eye structures. Exposure to substances like alcohol or drugs during pregnancy can also result in congenital eye disorders. Certain medications taken during pregnancy can also put the fetus at risk of congenital eye disorders.
Premature Birth
If a baby is born prematurely, i.e., before reaching full term, it can result in a range of health issues leading to vision problems. Often, ter,m births mean that the baby does not have enough time to develop the eyelids fully. Conditions like Retinopathy of Prematurity (ROP) lead to blindness and vision problems by disrupting the growth of blood vessels in the retina. Additionally, the time spent in neonatal care can result in extended exposure to high levels of oxygen. This exposure affects the development of blood vessels in the retina.
Birth Injuries
Complications during childbirth or the birth environment can sometimes cause physical trauma. This situation can result in congenital eye disorders. An injury to the head or the eye during delivery can immediately affect the baby’s vision. Lack of oxygen during birth can damage the optic nerve and the brain structures involved in vision. The birth trauma may not be immediately visible and affects the development of visual pathways as the baby grows up.
Unknown Causes
Sometimes, your doctor will not be able to determine the underlying cause of the congenital eye disorders. The interplay of genetic factors and environmental factors is complex and nuanced. It is not always possible to exactly pinpoint a single cause and say, this is the cause. Then, it is described as having congenital eye disorders with idiopathic origins or unknown causes. Medical research is ongoing to understand and remedy these underlying factors.
Impact of Congenital Eye Disorders on Vision and Eye Health
The type and severity of congenital eye disorders differ from child to child. But, an awareness of the most common disorders helps you prepare and respond better to the challenges of vision.
Here is a brief look into the 8 types of most common congenital eye disorders and their challenges –
Congenital Cataracts
When a baby has a congenital cataract, the lens of the eye becomes cloudy and obstructs light from reaching the retina. The baby’s pupil (usually black) appears white or cloudy. And the infant will not be able to focus on objects or follow movements with eyes. The baby would feel like it’s looking out of a foggy window.
Congenital cataracts could be caused dues to genetic mutations, infections during pregnancy, or certain metabolic disorders such as galactosemia.
Congenital cataracts are primarily treated with surgery to remove cloudy lenses and add corrective lenses. The child will have to use special glasses or contact lenses post-surgery to support visual development.
Congenital Glaucoma
Congenital glaucoma is caused by excessive eye pressure, which damages the optic nerve. It can cause significant damage if the treatment is delayed. Glaucoma is characterized by enlarged and cloudy corneas due to fluid buildup. The baby will display increased sensitivity to bright light and frequent tearing.
Congenital glaucoma is caused by inherited genetic conditions or genetic mutations. The abnormal development or malformation of drainage structures of the eye can also cause fluid retention.
The baby’s congenital glaucoma is treated with surgical procedures to correct eye drainage and reduce the elevated pressure in the eye. Eye drops can also be used to ease the symptoms like excessive tearing.
Retinopathy of Prematurity (ROP)
Infants develop Retinopathy of Prematurity (ROP) when the vessels in the retina are not developed properly. If the baby has ROP, you can notice symptoms such as misalignment of th eyes, uncontrolled eye movements, and and poor vision. If not treated properly, ROP can cause blindness.
Premature children are at great risk of Retinopathy of Prematurity (ROP) as their retina is not fully developed. High levels of oxygen in the intensive care units can also negatively affect the growth of retinal blood vessels.
Laser therapy can be used to address Retinopathy of Prematurity (ROP). It prevents the abnormal blood vessel development and stabilizes the retinal development. Freezing treatments can also be used to stop abnormal blood vessel formation in the retina. In rare cases, surgery might also be prescribed.
Congenital Ptosis
Congenital Ptosis is characterized by the drooping upper eyelid that covers the eye partially or completely. The obvious symptom is the noticeable sag in one or both eyelids. They might also tilt their head up or keep their face in a chin-up position to compensate for the obstruction of the vision.
This condition will affect both the vision and appearance of the baby’s eye. This type of eyelid can be formed due to weak or underdeveloped muscles or nerve issues. Some inherited genetic factors can also cause Ptosis.
Surgical interventions are needed to lift and reposition the eyelid to treat congenital Ptosis. Glasses might also be prescribed to improve visual alignment.
Strabismus (Cross-Eyes)
Congenital Strabismus is a condition where the child’s eyes do not align properly. One eye remains straight while the other eye is turned (up, in or out). When the eyes are misaligned, it affects the child’s depth perception and binocular vision. The child will not be able to judge the distance and spacial relationships of the objects around it. They may also get into the habit of tilting their head to achieve vision alignment.
Strabismus or cross eyes might be caused by muscle imbalances, farsightedness, or neurological conditions that interfere with the coordination of the eyes.
Surgery helps to realign the eye muscles to improve vision. Covering one eye with an eye patch also helps to improve the function of the weaker eye that has the tendency to turn. Glasses can address issues like farsightedness.
Coloboma
When a part of the eye is not fully formed, it results in congenial coloboma. This incomplete development could be in any part of the eye – retina, iris, or the optic nerve. Coloboma is characterized by irregularly shaped pupils, sensitivity to light, and vision issues.
Coloboma ithe result of genetic factors or conditions that affect the development of the structures in the eye. Disruptions to fetal development can also disrupt the growth of parts of the eye.
The coloboma treatment depends on the specific structure of the eye that is underdeveloped. The child might have to undergo a combination of surgical intervention, glasses, and contact lenses for vision correction and cosmetic enhancement.
Anophthalmia and Microphthalmia
Anophthalmia is an extreme and rare congenital eye disorder where the baby is born without eyes. Microphthalmia is the condition where the infant has underdeveloped eyes that are very small. Ascence of eyes or underdevelopment of eyes causes severe vision impairment and blindness.
Inherited genetic mutations usually cause both of these conditions. Certain medications and exposure to infections during pregnancy can also lead to Anophthalmia and Microphthalmia.
Cosmetic prosthetics help with the appearance of the eyes and restore the child’s self-esteem. Glasses or contact lenses may be useful in some cases to enhance vision.
Other Effects of Congenital Eye Disorder on Vision and Health
Apart from these specific conditions, congenital eye disorders also affect the child’s vision and health. These conditions can result in blurry or reduced vision and limit the child’s peripheral vision. These congenital disorders impair the child’s ability to judge depth and distance. Some children might suffer from light sensitivity.
How to Diagnose Congenital Eye Disorders
Today, we have a combination of diagnostic tools to screen for congenital eye disorders.
The medical professionals performs newborn eye screening immediately after birth to detect the presence of obvious abnormalities. Such screening helps to check the shape and color of the eyes along with sensitivity to light. The doctor will use the red reflex test to check for cataracts or retinal issues. During the test, a bright light is shone into the baby’s eyes to observe the light’s reflection (usually a reddish glow).
As the child grows up, visual acuity tests with eye test charts help to assess the sharpness and development of vision. The doctors will use eye movement tests to determine the coordination of the eyes as they track the movement of light or toys.
If there is an established history of congenital eye disorders, the doctors might recommend genetic testing. This test will help to assess the child’s risk of developing congenital disorders and put a treatment plan in place. The doctors might also suggest imaging tests like ultrasound, optical coherence tomography (OCT), or fundus photography. These tests are helpful in diagnosing structural deficiencies of the optic nerve and retina. And other parts of the eye.
Treatment Options for Congenital Eye Disorders
Congenital eye disorders need unique and tailored treatment. Such disorders might be caused by one or a combination of the factors we have discussed above. And the severity of it will vary from child to child. So, a comprehensive treatment approach is the way ahead.
Here is a look at the various treatment options for congenital eye disorders –
Surgical interventions help to treat congenital eye disorders such as cataracts, misaligned eyes, or glaucoma. Glasses and contact lenses help to address eye disorders caused by conditions such as farsightedness and astigmatism. Eye patches are a simple but effective solution to conditions like lazy eye.
Medications such as eye drops and oral medications can help to manage symptoms like elevated eye pressure and inflammation. Vision therapy (similar to physical therapy) can be useful to enhance eye coordination and focusing abilities. Assistive devices such as magnifiers and special education tools help the child to perform everyday tasks.
How to Prevent Congenital Eye Disorders
Some congenital eye disorders, such as the ones caused by genetic mutations, can not be prevented. But, parents can take proactive measures to minimize their baby’s risk.
The first step is regular prenatal care, which will help in screening for early detection and management of some congenital eye disorders. Keeping up with the vaccination schedule also protects both the mother and the child against infections. Eating a healthy diet rich in nutrients and abstaining from substances such as alcohol minimizes the baby’s risks. Genetic counseling will help the parents understand their risks and plan their family, considering genetic factors.
Living with Congenital Eye Disorders
A congenital eye disorder should not stand in the way of your child’s health and happiness. With your support and appropriate medical intevention, children can learn to navigate the vision challenges.
Early detection can make a huge difference in the treatment outcomes for the child. It will not only help to prevent future complications but also help the treatments to have the most impact. Regular visits to the eye doctor help to track the development of your child’s vision and address issues as soon as they develop.
Adapting the home and school settings, like adding glare-free lighting or using large print books, will help to normalize daily activities for the child. Encouraging the child to be independent gives them the self confidence to manage their vision challenges.
The parents must stay positive, optimistic, and confident so that the children can also feel the same about themselves. Remember, your reassurance helps your child’s self-esteem and influences how they approach their vision challenges.
As medical technology continues to evolve, new treatment options are becoming available for the treatment of congenital eye disorders. Staying informed about the different options can help you give your child the best care at the right time.
