Congenital Blindness: What You Should Know

Babies born with severely impaired vision or no vision have congenital blindness. It can develop from several types of genetic mutations or maternal infections during pregnancy.

A congenital problem develops before you are born, while you’re still developing in the uterus. One of those potential problems is congenital blindness.

In the first few weeks of life, doctors screen infants’ vision as a part of routine exams. Although babies can’t tell you what they see or how they see it, a pediatrician performs specific tests to check for any vision problems.

This article explores some types of congenital blindness, when symptoms might first appear, possible causes, and what you need to know if your child is born with this condition.

Congenital blindness is vision loss or severe vision impairment that is present at birth. Not included in this category are other types of blindness that develop because of injury or other medical conditions.

It might be difficult to determine whether congenital blindness truly is present at birth or develops in the immediate period after birth.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

Types of congenital blindness include:

• anophthalmos (one or both eyes missing)
• microphthalmos (eyes are abnormally small)
• coloboma (areas of tissue in the eye are missing)
• congenital cataract
• infantile glaucoma
• neuro-ophthalmic lesions

Some types of childhood blindness that develop after birth but may be mistaken for or lumped together with congenital blindness include:

• ophthalmia neonatorum (a type of eye infection)
• retinopathy of prematurity
• cortical visual impairment

It can be difficult to check for blindness in newborns because vision is poor at birth anyway.

After delivery, doctors will check your baby for obvious structural or external problems with their eyes, as well as for various congenital conditions that could cause blindness.

Beyond obvious, outward signs of vision impairment, you may not be able to tell how much your baby can see for the few first weeks of life.

However, eye doctors are trained to assess visual development in newborns and infants. They use a variety of examination techniques that can determine whether your baby can see properly.

Severe vision impairment or complete blindness may be difficult to notice at birth, as newborns generally have poor eyesight and are sensitive to bright light.

Your baby may squint, avoid focusing on certain objects, or even cross their eyes at first. At birth, infants without vision issues can only see about 8 to 10 inches in front of them.

Over time, vision becomes stronger, and your baby should be able to visually track things by around 3 months old.

Between the ages of 1 and 3 years, doctors can use more specific vision testing — plus, you and your baby will have ways of communicating that can help signal vision impairment.

This doesn’t necessarily mean vision gets worse during this time. Rather, it means your child is better able to tell you what they see and respond to medical assessments that can accurately gauge their visual acuity.

Your pediatrician will perform various physical and neurologic examinations immediately after birth and almost every month during your baby’s first year.

Tests at birth usually focus on blood tests, hearing tests, and ruling out serious or life threatening conditions. Since vision is not fully developed at birth anyway, doctors may not diagnose or notice vision problems in your infant at this time.

More focused eye examinations usually begin when your infant is around 2 months old. But it can still be difficult to have an idea of what your baby sees.

An infant whose eyes continually oscillate back and forth (nystagmus) may have vision problems. Other findings may include crooked eyes, pupillary abnormalities, and not being able to track a visual target.

Your pediatrician may ask you questions about eye movements and what your baby likes to look at. They may also examine the external and internal structures of your baby’s eyes, checking for proper alignment and reflection of light as it bounces off the retina (red reflex).

If your pediatrician suspects any abnormalities, they will likely refer your child to a pediatric ophthalmologist for a more comprehensive assessment.

Congenital blindness typically results from some form of genetic mutation that occurs during development. Infections, cataracts, glaucoma, and prematurity can all lead to vision impairment or loss, too.

One of the main types of congenital blindness — although still rare — is Leber congenital amaurosis (LCA). It’s an inherited condition that affects the retina. Symptoms may include:

• crossed eyes (strabismus)
• rapid, involuntary eye movements (nystagmus)
• sensitivity to light (photophobia)
• clouded lenses of the eyes (cataracts)
• a cone shape to the front of the eye (keratoconus)

Additionally, you may notice your baby poking, pressing, or rubbing at their eyes, causing the eyes to become sunken or depressed over time.

Only 1 to 2 babies out of every 100,000 have LCA, but there are as many as 27 genetic mutations that could lead to it.

Other potential causes of congenital blindness include things like:

• maternal cytomegalovirus infection during pregnancy
• congenital rubella syndrome
• congenital toxoplasmosis
• congenital syphilis
• congenital fibrosis of extraocular muscles

Many forms of infantile blindness and vision-affecting conditions are reversible. Those may include:

• congenital cataract
• congenital glaucoma
• corneal opacification
• infantile amblyopia due to anisometropia or strabismus

Depending on the cause of the vision problems, some treatments and therapies may help improve vision over time.

Because many clinical circumstances may vary even within the same eye condition for newborns, it’s important for new parents to seek expert eye care for their baby as early as possible to improve the likelihood of successful treatment.

There’s some research being done on different gene therapies, but these treatments are still in the early phases of research and clinical trials.

For example, in LCA, gene therapy may help treat the condition.

If cataracts are the cause of congenital blindness, surgery may provide some improvement if done in the first few months after birth.

If vision loss is permanent, parents can provide education and assistance to help their child navigate the world without their vision.

Congenital blindness can develop as a result of several types of genetic mutations, developmental issues, or maternal infections during pregnancy.

Treatment depends on the condition causing the vision impairment or loss. For any type of vision problem, meeting with a pediatric ophthalmologist can help you get the support you and your newborn need.

Talk with your healthcare team about your personal and family health history and how that may affect your baby’s vision and overall health. You may want to consider genetic counseling if a condition that can lead to congenital blindness runs in your family.

Last medically reviewed on April 13, 2023

How we reviewed this article:

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