Ocular Albinism

Ocular albinism (OA) is a type of albinism that affects your eyes. It impacts the color of your eyes and how well they work. Having ocular albinism means that your body doesn’t make or distribute enough melanin in your eyes. It can also affect the structure of certain eye tissues, causing other issues. Ocular albinism can sometimes lead to vision problems later in life.

Melanin is the pigment that gives your eyes, skin and hair their color. But it’s also a key part of how your eyes work. So, if you don’t have enough, or any, melanin in your eyes, you might have vision issues.

There are two types of ocular albinism: OA1 (also known as Nettleship-Falls OA) and OA2 (also known as Åland Island eye disease or Forsius-Eriksson OA).

Ocular albinism is a rare genetic condition that others might not be able to tell you have. But it’s common for this condition to affect how you see the world around you. It’s understandable to feel frustrated or worried by a condition that has few or no outward signs. But eye care specialists and other healthcare providers can guide you and help you find treatments.

Symptoms of ocular albinism

Some people with ocular albinism will have light blue/pale gray irises. But brown irises are still possible, too. Other possible eye-specific signs and symptoms can include:

• Nystagmus
• Decreased color vision or color blindness
• Eye misalignment (strabismus) and binocular vision dysfunction
• Blurred vision or double vision
• Light sensitivity (photophobia)
• Refractive errors
• Low vision (sometimes severe enough to cause legal blindness)

The only non-eye symptom possible with ocular albinism happens with late-onset sensorineural hearing loss. Like the condition’s name indicates, it causes hearing loss sometime before age 50.

Ocular albinism causes

Ocular albinism is a genetic disease, which means it happens because of changes (mutations) in your DNA. The mutations specifically affect the way your body makes or distributes melanin.

Those mutations can happen in the following ways:

• Inherited. This means you inherit the mutation from one or both of your biological parents. This is called autosomal recessive inheritance.
• Sporadic (de novo). This means the mutation happens spontaneously in a developing embryo. It isn’t inherited from a biological parent.

How is ocular albinism diagnosed?

A healthcare provider or eye care specialist may suspect ocular albinism because of visible differences they can see during an eye exam. They can then use a combination of methods to confirm and diagnose OA, including the specific type and subtype you have.

Some of the signs your eye specialist may be able to see include:

• Iris transillumination. Transillumination means your irises are thin enough for light to shine through them. That happens because you don’t have the expected amounts of melanin in your irises, which can make them thinner.
• Retinal differences. Ocular albinism can sometimes cause differences in the shape of a specific part of your retina called the fovea. Those differences can affect how your retinas work.
• Nerve structure differences. If you have ocular albinism, you’re more likely to have differences in the structure of the optic nerve connections that link your eyes and brain. Those differences may affect the way your brain processes visual signals and the way you see the world.

Other methods that may play a role in diagnosing ocular albinism include:

• Blood tests
• Genetic testing
• Visual evoked potentials (VEP)
• Optical coherence tomography
• Slit lamp exam

In some cases, testing one or both biological parents of a child who has OA may help determine what type of OA the child has.

Can ocular albinism be corrected?

Not entirely. Ocular albinism is a genetic disorder, which means it happens because of differences in your DNA and isn’t treatable. But the effects of OA on your eyes — like refractive errors or eye misalignments — are usually treatable. The treatments can help you see better, but they don’t do anything for the underlying genetic disorder.

Regardless of what type of OA you have or the effects it causes, your eye care specialist is the best source of information about possible treatments.

What questions should I ask my doctor?

Some questions you may want to ask your healthcare provider or eye specialist include:

• What type of ocular albinism do I have?
• Is it something I inherited?
• Could my biological children inherit it from me?
• What treatments do you recommend?
• What resources are available that may help?

What can I expect if I have ocular albinism?

Ocular albinism is a lifelong condition, but it’s often an invisible one. Many people don’t know they have OA until they undergo an eye exam that detects changes inside their eyes. People can have mild to severe visual impairment. People with ocular albinism often need regular eye care throughout their lives. It’s also possible for people to learn they’re carriers of mutations that cause OA when they have a biological child with symptoms of the condition.