Ocular albinism

Ocular albinism is a genetic condition affecting around one male in every 20,000 births (Source: National Organization for Rare Diseases). It causes vision problems, including poor visual acuity and other eye problems like strabismus and nystagmus. Ocular albinism is present from birth and doesn't get worse over time.

There's no cure for ocular albinism; instead, the focus is on managing symptoms. For example, prescription glasses or contact lenses can help with vision, and tinted lenses can make it easier to cope with light sensitivity. Children with ocular albinism will benefit from help to make the most of their vision from an early age, including extra support at school.

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Ocular albinism symptoms

Ocular albinism is a type of albinism that causes a lack of pigmentation in the iris and retina in the eye. The pigment melanin normally plays a role in normal vision. The lack of pigmentation causes symptoms that affect vision. Unlike oculocutaneous albinism which also affects hair and skin, ocular albinism just affects the eyes.

Signs and symptoms of ocular albinism can include:

  • Poor visual acuity causing blurred vision, making it harder to see clearly.
  • Poor depth perception making it harder to judge distances, which can make children appear clumsy.
  • Nystagmus, rapid involuntary eye movements that others may notice.
  • Strabismus, when the eyes don't look in the same direction.
  • Problems with the optic nerve that sends visual messages from the eye to the brain to provide vision.
  • Sensitivity to bright light known as photophobia.
  • Refractive errors such as astigmatism and nearsightedness or farsightedness.

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What causes ocular albinism?

Ocular albinism happens when there are lower than normal levels of melanin pigment in the eyes. Melanin is normally present in the iris and retina (at the back of the eye) and plays an important role in providing clear vision. The optic nerve may also show some abnormalities.

The lack of pigmentation in ocular albinism is due to a gene mutation affecting the GPR143 gene. You may have genetic testing to confirm a diagnosis of ocular albinism. The most common form of ocular albinism is ocular albinism type 1, also known as Nettleship-Falls type. Occasionally, ocular albinism is not due to a mutation in the GPR143 gene, in which case the cause may be unknown.

Ocular albinism treatments

There isn't a cure for ocular albinism, but you can manage some symptoms. Children with ocular albinism will typically have annual eye exams with an ophthalmologist to monitor their symptoms.

Ways to help manage ocular albinism include:

  • Wearing glasses or contact lenses to help improve vision and correct refractive errors.
  • Wearing UV sunglasses or tinted lenses and a wide-brimmed hat to cope with bright light.
  • Using low vision aids such as magnifying lenses, large print and high contrast materials at school and work.
  • Telescopic lenses attached to glasses to help read writing that's further away.
  • Technology such as speech-to-text software.

Treatments may help with strabismus and nystagmus, such as eye exercises, injections into the eye muscles, and surgery. These don't cure ocular albinism but deal with specific symptoms.

When to get medical advice

Ocular albinism may first be detected by a newborn screening check. If there is a history of ocular albinism in your family, it is a good idea to mention this to your healthcare team. If you have any concerns about your baby or child's sight, speak to your health visitor or GP. They can refer your child to an ophthalmologist, if necessary, for review and diagnosis.

If your child is diagnosed with ocular albinism, they will have regular appointments with an ophthalmologist to monitor their vision and eye health. If you or your child have any concerns or notice changes between appointments, ask for advice straight away rather than waiting for their next appointment.

Living with ocular albinism

If your child is diagnosed with ocular albinism, they may have a visual impairment. They will probably need help to manage their symptoms and support to encourage their visual development from an early age.

You might worry about your child living with some vision loss, which is perfectly normal. You'll be responsible for taking them to regular ophthalmology appointments, helping them make the most of their vision, and ensuring they get the support they need at school.

We're here to support you every step of the way, with practical help for your child and your family as a whole. Find out more about how we can help families living with ocular albinism.

Frequently asked questions

Medically reviewed by: The Royal College of Ophthalmologists on 18/10/2022

Edited by: Nick Astbury FRCS FRCOphth FRCP
Clinical Associate Professor

The Royal College of Ophthalmologists champions excellence in the practice of ophthalmology and is the only professional membership body for medically qualified ophthalmologists. The RCOphth is unable to offer direct advice to patients. If you’re concerned about the health of your eyes, you should seek medical advice from your GP, optometrist or ophthalmologist.

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