Children’s eye health is crucial to their overall well-being, yet many parents are unaware of the rare eye conditions that can affect their little ones. 

If not diagnosed and treated promptly, these conditions can significantly impact a child’s vision and quality of life. This is where pediatric ophthalmologists come in.

Pediatric ophthalmologists play a vital role in diagnosing and treating these rare eye conditions, ensuring that children receive the best possible care for their vision health. 

In this blog post, we’ll explore ten rare pediatric eye conditions and discuss the treatments available to help manage these conditions.

10 rare pediatric eye conditions

Early detection and intervention are critical for managing these eye conditions effectively. Here’s a look at ten rare pediatric eye conditions:

  1. Bietti’s crystalline dystrophy

Bietti’s crystalline dystrophy causes a buildup of crystal deposits in the cornea and retina, affecting vision. Symptoms typically appear in childhood and worsen over time. 

There’s no cure, but pediatric ophthalmologists can manage it with eyeglasses, special filters to protect the eyes from light damage, and low-vision aids.

  1. Coloboma

Coloboma is a condition that arises during fetal development when a part of the eye’s structure fails to form completely. It can affect the iris, eyelid, or optic nerve, causing vision loss that varies depending on the severity. 

Treatment options include eyeglasses, contact lenses, or, in some cases, surgery to improve vision or the appearance of the eye.

  1. Congenital cataracts

Unlike cataracts in adults, which develop over time, congenital cataracts are present at birth or appear in early childhood. They can cloud the lens, hindering vision development. 

Early detection and surgical removal of cataracts are crucial to preserving vision. Pediatric ophthalmologists may also prescribe special glasses or contact lenses after surgery.

  1. Leber congenital amaurosis (LCA)

This is a group of inherited eye diseases that affect the light-sensitive cells in the retina. Symptoms like night blindness, decreased vision, and sensitivity to light can appear in infancy or childhood. 

There’s currently no cure for LCA, but gene therapy is a promising area of research. Pediatric ophthalmologists can manage symptoms with low-vision aids, genetic counseling, and support groups.

  1. Megalocornea

This condition is characterized by an abnormally large cornea, the clear dome-shaped structure at the front of the eye. It can cause nearsightedness, astigmatism, and other vision problems. 

Early diagnosis is essential to prevent complications like glaucoma. Treatment options include eyeglasses, contact lenses, or, in severe cases, surgery to reshape the cornea.

  1. Microphthalmia

This condition results in an abnormally small eye. It can affect one or both eyes and may be accompanied by other developmental problems. The severity of vision loss varies depending on the size of the eye and other factors. 

Treatment may involve eyeglasses, contact lenses, or surgery to improve vision or manage complications.

  1. Optic nerve hypoplasia

This condition develops when the optic nerve, which carries visual information to the brain, doesn’t fully develop. It can cause vision loss that ranges from mild to severe. There’s no cure, but pediatric ophthalmologists can help manage the condition with low-vision aids, vision therapy, and support services.

  1. Persistent fetal vasculature syndrome (PFVS)

In the womb, blood vessels nourish the developing eye. Normally, these vessels disappear before birth. 

However, in PFVS, some of these vessels persist, causing abnormal blood vessel growth in the eye. This can lead to vision problems like cataracts, glaucoma, and retinal detachment. 

Treatment for PFVS typically involves laser surgery or injections to destroy the abnormal blood vessels.

  1. Retinoblastoma

This is a rare childhood eye cancer that develops in the retina. Signs like white pupils, crossed eyes, or unusual eye movements might be present. 

Early detection is crucial for successful treatment, which may involve surgery, radiation therapy, or chemotherapy, depending on the severity.

  1. Wagner’s vitreoretinal degeneration

This genetic condition affects the development of the blood vessels and connective tissue in the eye. It can cause progressive vision loss, retinal detachment, and cataracts. 

While there’s no cure, pediatric ophthalmologists can monitor the condition and offer treatment for complications as they arise.

What are the treatment options for rare eye conditions?

Pediatric ophthalmologists offer a range of treatments for rare eye conditions, including:


Depending on the specific condition, medications can play a vital role. Antibiotics tackle infections, while eye drops can reduce inflammation associated with conditions like uveitis. Medication can also help regulate eye pressure in cases like glaucoma, which damages the optic nerve. 

Pediatric ophthalmologists carefully select medications, considering a child’s age and potential side effects.

Eye patching

This technique involves covering one eye with a patch. It is often used to treat amblyopia, also known as lazy eye. By forcing the weaker eye to work harder, patching encourages proper vision development. 

The doctor will determine the patching schedule based on the child’s needs and monitor progress closely.

Glasses and contact lenses

Corrective lenses are a mainstay of treatment for many eye conditions. Glasses can address refractive errors like nearsightedness, farsightedness, and astigmatism. Contact lenses might be an option for older children who find glasses uncomfortable or participate in sports. 

Pediatric ophthalmologists can prescribe specialized lenses for specific conditions, ensuring optimal vision correction.

Vision therapy

This non-invasive treatment program uses exercises to train the brain and eyes to work together more effectively. It can improve focusing abilities, eye teaming (coordination between both eyes), and depth perception. Vision therapy is beneficial for conditions like amblyopia or strabismus (crossed eyes).


In some cases, surgery might be necessary to address the underlying cause of a rare eye condition. Pediatric ophthalmologists are specially trained in performing delicate procedures on children’s eyes. Examples include:

  • Cataract surgery to remove a clouded lens
  • Surgery to reshape the cornea for conditions like megalocornea
  • Corrective surgery for strabismus

Not sure if your child has a rare eye condition? Pediatric Eye Associates can help

A rare eye condition can be a source of worry for parents. However, with the expertise of our pediatric optometrist and pediatric eye doctor, your child will receive the best possible care. 

Schedule an appointment today to ensure your child sees clearly and confidently. Our pediatric eye doctor treats a wide range of conditions, from common issues like  pink eye, and blocked tear ducts to nearsightedness (myopia), and more complex concerns. 


The material contained on this site is for informational purposes only and DOES NOT CONSTITUTE THE PROVIDING OF MEDICAL ADVICE, and is not intended to be a substitute for independent professional medical judgment, advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions or concerns you may have regarding your health.