Congenital Blindness

Congenital blindness refers to vision loss or significant vision impairment present at birth. This condition occurs when a baby’s eyes do not develop properly during pregnancy. It differs from blindness caused by injuries or illnesses later in life. Some children may have partial vision, while others are completely blind. Early diagnosis is essential to provide care and support as the child grows.

The leading causes of congenital blindness worldwide are genetic mutations and congenital abnormalities. In some cases, preventable factors, such as infections during pregnancy, can play a role.

Some of the most common forms include:

Leber congenital amaurosis (LCA), which affects the retina
Retinopathy of prematurity (ROP), which affects premature babies
Congenital cataracts, where the lens of the eye is clouded

Other types, such as optic nerve hypoplasia (ONH) and congenital glaucoma, also contribute to vision loss or severe impairment from birth.

Nearly half of childhood blindness cases could be prevented or treated with early diagnosis and proper medical care.

Causes and Risk Factors of Congenital Blindness

Genetic mutations cause many cases of congenital blindness—more than 260 genes can affect the development of the retina, optic nerve, or other eye parts. Some children inherit genetic diseases like Leber congenital amaurosis or congenital cataracts, while others are born with eye abnormalities, such as anophthalmia (missing eyes) or microphthalmia (small eyes).

Maternal infections during pregnancy, like rubella, syphilis or toxoplasmosis, are also risk factors for vision loss. Premature babies are at higher risk for retinopathy of prematurity (ROP), which affects the retina. Socioeconomic factors, such as limited access to health care or early interventions, can increase the chances of preventable blindness in some areas.

Signs and Symptoms of Congenital Blindness

Early signs and symptoms of congenital blindness can be subtle but recognizing them is essential for timely intervention. Key symptoms of visual impairment to look for in newborns include:

Trouble following moving objects or people with their eyes
Loss of vision or severe impairment present at birth; however, it can sometimes be hard to distinguish from vision problems that develop shortly after birth
Blurring of vision or severe vision loss when a child has difficulty focusing on objects around them
Limited peripheral vision, trouble seeing things out of the corner of their eye, or difficulty noticing objects off to the side
No reaction to light, movement, familiar faces, or visual surroundings, which may indicate complete blindness
Redness, swelling, or discharge in a newborn’s eyes, which could be signs of an eye infection like ophthalmia neonatorum
High intraocular pressure inside the eye, which can be a sign of congenital glaucoma and lead to severe vision loss if left untreated

Signs of Leber congenital amaurosis (LCA), the most common form of congenital blindness that affects 1 to 2 babies out of every 100,000, may include the above mentioned, as well as:

Cataracts
Aversion to light, also known as photophobia
Hearing impairment
Developmental delays

Timely detection of congenital blindness is critical for ensuring that a child receives the proper care and support as soon as possible. Vision screenings in the first few weeks of life can help spot any signs of vision problems or blindness, allowing families to act quickly and avoid more considerable challenges.

Diagnosis and Tests for Congenital Blindness

Congenital blindness and severe vision impairments are often diagnosed through exams done by pediatricians shortly after birth and during the first year. Doctors look for basic visual responses, such as reacting to light or movement.

By around 2-months-old, more focused eye exams are done to check for signs like nystagmus (uncontrolled eye movements), misaligned eyes, or abnormal pupil reactions. These signs help assess sharpness of vision and detect vision problems early.

If doctors notice anything unusual, they will refer the baby to a pediatric eye specialist (ophthalmologist). Early referrals are vital to making sure children with severe vision impairments get the care and support they need as soon as possible.

Treatment for Congenital Blindness

Congenital blindness presents unique challenges, but there are treatments that can help improve vision and support your child’s growth and development. Based on the specific cause and severity, doctors may suggest one or more of the following approaches:

Gene Therapy: For some genetic forms of congenital blindness, gene therapy offers a breakthrough approach. This treatment works by delivering a functional copy of a defective gene directly to the retina, helping light-sensing cells function more effectively.
Surgery: Some congenital conditions, such as cataracts or glaucoma present at birth, can be treated with surgery. Removing congenital cataracts or addressing high pressure in the eye due to glaucoma can help prevent further vision loss.
Vision Aids and Assistive Technology: For children with limited vision, specialized vision aids and assistive technologies can enhance their ability to see and interact with the world. These may include glasses, magnifying devices, and digital tools designed to improve contrast and brightness. Assistive technology, like screen readers or text-to-speech software, can also provide essential support.
Occupational and Vision Therapy: Vision and occupational therapy help children develop essential life skills, even with severe vision impairment. Through personalized therapy plans, children can work on sensory skills, mobility, and daily tasks, building confidence and independence.
Diet and Nutritional Support: For certain genetic conditions linked to blindness, such as retinitis pigmentosa, some studies suggest that specific vitamins and nutrients may slow disease progression. Nutritional therapy is not a cure but may offer supportive benefits under a doctor’s guidance.

Gene Therapy Treatments for Congenital Blindness

Retinal gene therapy is a groundbreaking treatment offering hope for children with congenital blindness. It works by addressing the root genetic causes of vision loss by delivering a healthy copy of the faulty gene directly into the retinal cells through a surgical injection. Once the new gene is in place, it helps the light-sensing cells in the retina function normally again, which can lead to significant improvements in vision. For conditions like Leber congenital amaurosis (LCA), caused by mutations in the RPE65 gene, this therapy provides a chance for vision restoration, even in patients who have had severe vision loss for years.

Luxturna®, an FDA-approved gene therapy drug designed for patients 12 months or older, targets the genetic mutations responsible for LCA and other retinal diseases. Children treated with Luxturna have experienced improved vision, showing that gene therapy can help restore sight. Children’s Hospital Los Angeles is one of the few pediatric centers in the U.S. to offer this treatment.

Learn more about cell and gene therapy at CHLA.

Congenital Blindness Care at Children’s Hospital Los Angeles

CHLA offers specialized services for children with congenital blindness and provides access to advanced treatments like surgery and gene therapy. Our Vision Center is renowned for its expertise in treating various eye diseases and conditions and our focus on pediatric ophthalmology research ensuring that your child receives the most comprehensive care possible.

In 2018, our Vision Center became the first on the West Coast to perform a Luxturna procedure, a groundbreaking gene therapy for inherited retinal conditions. In 2024, we completed our 100^th retinal gene therapy treatment and have treated more patients with Luxturna than any other center in the nation. As the first pediatric hospital authorized to offer this therapy and the only center in California (and one of just two in the Pacific region) approved to deliver Luxturna, CHLA is uniquely positioned to help children with conditions like Leber congenital amaurosis. Our gene therapy approach has already improved vision for many young patients, giving families hope for a brighter future.

Congenital Blindness Clinical Trials

At CHLA, we offer gene therapy clinical trials to give children with inherited forms of blindness access to promising new treatments. Through The Saban Research Institute of CHLA, these trials provide hope for families affected by conditions like Leber congenital amaurosis type, allowing children to benefit from the latest advancements in gene therapy.

If there isn’t a form of gene therapy currently available for your child’s diagnosis, we invite you to join our research registry. By enrolling, your child will be considered for future trials as new experimental gene-editing treatments are developed. When a new treatment becomes available that matches your child’s genetic profile, we’ll reach out with an opportunity to participate in the clinical trials of these groundbreaking therapies.

Learn more about The Saban Research Institute and our clinical trials.