Ocular Albinism: Overview and More

Ocular albinism is an inherited condition associated with certain vision-related problems. When you have ocular albinism, a part of the retina, which is the light-sensitive tissue in the back of the eye, does not fully develop. This happens partly because the eye does not have enough pigment, also called melanin. Eye pigmentation helps the eyes to develop normal vision.

Ocular albinism affects an estimated one in 20,000 to one in 60,000 males and is much less common in females. Although the eyes of someone with ocular albinism are often lighter colored, the condition does not affect skin or hair color. If there is a lighter skin color compared with their family members, it is usually only a minor difference.

Types of Ocular Albinism

Ocular albinism is a type of albinism, but it is not the same as oculocutaneous albinism. When you have oculocutaneous albinism, the condition affects your eyes, hair, and skin. This occurs because of a lack of melanin. Although ocular albinism and oculocutaneous albinism are not the same, the eye problems associated with them are similar.

Type 1 ocular albinism is the most common form of ocular albinism. This is also called Nettleship-Falls ocular albinism. There are other types, but they are much less common.

Ocular Albinism Symptoms

When a baby with ocular albinism is born, there are not usually obvious signs of the condition. The iris may appear normal-colored and may get darker with age.

On examination, when an eye doctor looks at the eye by shining a light on the side of it, the doctor will notice that there is very little pigment in the eye overall or there are specific areas that have only a little pigment.

There are several vision-related symptoms that may eventually lead to a diagnosis of ocular albinism, including:

• Eyes that do not look in the same direction, which is called strabismus
• Foveal hypoplasia, describing the underdevelopment of the fovea, which is part of the retina in the back of the eye
• Reduced vision, making it hard to read words on a blackboard, leading to learning problems at school and difficulty playing sports
• Nystagmus, uncontrollable movements of the eyes back and forth, a symptom that can become evident when a baby is 3–8 weeks old but often improving at ages 5–8, although it can last into adulthood
• Problems with the optic nerves, which carry information from the eyes to the brain
• Sensitivity to bright light

The less common forms of ocular albinism can have other signs and symptoms, such as hearing loss.

Causes

Type 1 ocular albinism is caused by your genes. Specifically, it refers to a mutation, or change, in the GPR143 gene. This is a gene that has a role in controlling the pigmentation in your eyes and skin.

In most people, the gene for ocular albinism appears on the X chromosome. When a mother carrying the gene for ocular albinism has a son, there is a 50% chance that the son will have ocular albinism.

In the other, less common forms of ocular albinism, doctors are not certain of the cause.

Diagnosis

Healthcare providers will bring together different information to help diagnose ocular albinism. This includes:

• Lab test results
• Medical history
• A physical exam
• Results from a test called visually evoked potential, or VEP

Although VEP gives some information related to visual acuity in infants, the visual pathways tested with a VEP test will continue to grow and develop throughout childhood.

With an exam, an eye doctor usually can detect if a mother has the X-linked albinism gene by looking for a certain pattern of pigment in the retina. This pattern is called mottling. Females with the gene for ocular albinism do not experience the same effects to their vision as males do.

Treatment

There is no treatment for ocular albinism itself. It can be challenging to treat visual problems from ocular albinism since part of the retina never fully develops. However, there are treatments that can attempt to improve your vision.

Regular eyeglasses and contact lenses can improve reduced vision. Even with glasses or contacts, though, your vision with ocular albinism still may be impaired. There also are glasses that have small telescopes mounted onto them to assist with close and distance vision for older children and adults.

Eye doctors can perform surgery for strabismus. This can help improve vision and the appearance of the eyes. Still, the surgery does not usually lead to exact coordination of the eyes.

Prognosis

Ocular albinism does not affect how long a person will live. Although vision loss from ocular albinism will remain throughout life, it will not get worse. Ocular albinism will not cause you to become completely blind, although some people with the condition are considered legally blind. Vision may get slightly better as a teenager.

If you have ocular albinism, you may not be able to get a driver's license due to vision limitations.

Coping

If you have ocular albinism or you have a loved one with the condition, there are a few tips to help better manage it. These tips can improve both quality of life and any emotions associated with having ocular albinism:

• Learn as much as you can about ocular albinism. This will make you better prepared to manage any challenges you or your child may face.
• Ask your eye doctor or your child's eye doctor about low-vision aids that can help make visual tasks easier. In addition to glasses or contact lenses, low-vision aids like magnifying glasses often help people to read or do other daily tasks.
• Use sunglasses and hats to help shield eyes from the glare of the sun.
• Find someone to talk to about conflicting feelings you have regarding your ocular albinism. Sometimes, a person with ocular albinism will try to deny having the condition or have self-esteem issues because of the condition. Reach out for help from others, such as a mental health professional if this is the case for you or your loved one with ocular albinism.
• Take part in support groups that will connect you with others facing visual impairment. This includes the National Association for Parents of the Visually Impaired, the Council of Citizens with Low Vision International, and the National Organization for Albinism and Hypopigmentation. These groups also have many useful resources.

Summary

Ocular albinism is a genetic condition that causes a lack of pigment in the eyes. It is associated with visual problems, such as reduced vision and crossed eyes. There are treatments for the associated visual problems but not for ocular albinism.

A Word From Verywell

Having ocular albinism requires some management of eye-related symptoms or conditions. Keep up with any regularly scheduled appointments with your eye doctor or your child's eye doctor to ensure the best vision possible.