Buphthalmos

What is buphthalmos?

Buphthalmos is the medical term for an inherited congenital enlargement of your eye. Congenital means something that’s present when you’re born. The size of your eye is apparent at birth or in the first few months of life. It can happen in one eye (unilateral) or both eyes (bilateral).

Buphthalmos (sometimes called buphthalmia) is an autosomal recessive genetic condition. Autosomal recessive describes a pattern of inheritance in which both parents need to pass an altered gene onto their child for the child to inherit the condition or trait. One out of four of the total children in a union will get an autosomal recessive gene if both parents have it. Parents, however, may not even know that they have these genes.

Buphthalmos comes from the Greek words for “ox” and “eye.” It comes from having big eyes like those of an ox or a cow. The ancient Greek physician Hippocrates was the first to identify the condition.

How common is buphthalmos?

Buphthalmos happens in about 1 in 30,000 births. It doesn’t seem to happen more often in one sex. Some groups may be more at risk of developing buphthalmos, including people in Slovakia, Saudi Arabia and South India.

What are the signs and symptoms of buphthalmos?

The most visible sign of buphthalmos is having large eyeballs when you’re an infant. Either one or both of your eyes might be big. Depending on what’s causing the buphthalmos, you may have other symptoms, including:

• Eyes that water, tear up or become irritated easily.
• Eyes that are sensitive to light (photophobia).
• Eye twitching or blinking.
• Haziness of the cornea, which is normally clear and acts as the “window” of your eye.
• Stretching, thinning and possible breaks in the cornea.

What causes buphthalmos?

The most common cause of buphthalmos is primary congenital glaucoma or primary infantile glaucoma. Glaucoma causes damage to your optic nerve and can cause vision loss. It’s thought that this damage happens because of fluid build-up and increased pressure within your eye (intraocular pressure or IOP).

Primary congenital glaucoma starts at birth, while primary infantile glaucoma starts after birth until a child is three years old.

Other causes of buphthalmos include:

• Aniridia: This rare condition affects your iris (the colored part of your eye). If you have aniridia, your iris is either partially or completely missing. Aniridia may affect vision.
• Neurofibromatosis type 1: This is mostly an inherited condition. Tumors can grow on nerves, which can cause problems with your eyes.
• Sturge-Weber syndrome: This congenital condition causes blood vessels to grow too much, producing angiomas. The condition can affect your skin, brain and eyes.
• Birth injury: An injury that happens during delivery can harm your eyes.

What tests will be done to diagnose buphthalmos?

Parents may be the first to notice an issue with their child’s eye and should ask a healthcare provider about any concerns. A pediatrician may recommend a visit to an eye care specialist.

In the case of buphthalmos and congenital glaucoma, this is especially important. Early treatment will lead to better vision.

To diagnose buphthalmos, the provider may need to use anesthesia to do some of the following tests:

• A thorough eye exam: The provider will be able to see if your cornea is cloudy, torn or swollen. They’ll also be able to measure your eye and see if there is cupping of the optic disk, where the optic nerve leaves your eyes.
• Retinoscopy: This test will tell the provider if you have refraction errors, like myopia (nearsightedness).
• Gonioscopy: This type of test checks your eyes’ drainage system. Healthy eyes continually make and drain fluid. In glaucoma, the fluid backs up, raising pressure and damaging the optic nerve.
• Ultrasound biomicroscopy: This noninvasive test gives images of the front part of your eye and can show drainage problems. It can give more detailed images than a plain ultrasound (sonogram).

How is buphthalmos treated?

It’s important to treat ocular pressure in treating buphthalmos. There are a number of ways to reduce pressure, including medications. Eye drops or other topical items contain beta blockers, prostaglandin analogs or carbonic anhydrase inhibitors.

Surgical procedures that treat ocular pressure by helping fluid to drain include:

• Placing implants in your eye.
• Making cuts in your eye structures.
• Removing tissue from your eye.

Of course, if you have buphthalmos, you may have other conditions that need treatment. The provider will help with treating neurofibromatosis type 1, Sturge-Weber syndrome or aniridia.

How can I prevent buphthalmos?

You really can’t prevent buphthalmos, but you can prevent a bad outcome by finding and treating buphthalmos early in your child’s life.

What can I expect if I have buphthalmos?

Buphthalmos is treatable. The best outcome in terms of preventing vision loss is finding and treating the condition early.

How do I take care of myself or my child in terms of buphthalmos?

It’s important for everyone to have regular eye examinations, but it’s especially important for anyone who has a congenital eye condition. Ask questions about changes in vision and when you should contact a care provider.

In addition to the exams, do what you can to have healthy eyes. Proper eye care includes:

• Eating healthy and drinking enough water.
• Getting enough sleep and physical activity.
• Wearing protective eyeglasses in the sun, when working and when playing sports.
• Quitting smoking.

A note from Cleveland Clinic

Eye care is important right from the beginning of your child’s life all the way through adulthood. This is especially true in cases of eye conditions that are present at birth or in the early months of a child’s life. If you feel like something isn’t quite right about the way your child’s eye looks, contact a healthcare provider. If buphthalmos is present, glaucoma and high pressure in the eye are likely present as well. It’s best to deal with this early.