Ocular Albinism: What It Is & How It Affects Vision

Ocular albinism is a genetic condition of the eyes, in which pigmentation in the iris is reduced.

Also referred to as X-linked ocular albinism, ocular albinism predominantly affects males. Symptoms are detectable at a very young age, sometimes during infancy. 

This condition results in anywhere from mild to extreme light sensitivity and a reduction in the pigmentation of the iris. Because the light-sensitive tissue at the back of the eye is essential for normal vision, damage or dysfunction in this area affects how the eyes function and the manner in which light and color are processed. 

Causes of Ocular Albinism

Ocular albinism is a genetic condition that is inherited when at least one parent has a gene mutation that causes a predisposition to the disorder. 

Specifically, this condition is caused by a mutation within the X chromosome that is responsible for encoding a protein containing 404 amino acids that are linked with ocular albinism. The mutation occurs in the G protein-coupled receptor 143. Because this protein is expressed in the retinal pigment epithelium of the eye, the result is disruption of color. 

Ocular albinism is in no way contagious, but it is transferable genetically within families. It is more common in men than women, and it is usually present at birth. This condition is extremely rare, with an incidence of approximately 1 in 20,000 births.

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Symptoms of Ocular Albinism

The main symptom of this condition is the disrupted production of pigment within the eyes. 

Additionally, ocular albinism has been linked to a range of vision problems. Examples include the following:

• Reduced pigment within the retinas
• Blurred vision
• Lack of foveal development (referred to as foveal hypoplasia)
• Involuntary contractions and movement in the eyes
• Abnormal connections in the retinal nerves leading to the brain
• Crossed eyes (also known as strabismus)
• Extreme sensitivity to light (also known as photophobia)

Individuals with ocular albinism typically have normal skin and hair pigmentation. 

Ocular albinism commonly co-occurs with certain other eye conditions, such as strabismus (eyes that point in different directions), nystagmus (rapid, uncontrolled eye movements), and photophobia (extreme sensitivity to light).

In some cases, ocular albinism occurs alongside vision and balance issues. This condition is called ocular albinism with sensorineural deafness. It is also known as Waardenburg syndrome.

How It Affects Eyesight

Vision loss is generally associated with ocular albinism, including impaired visual acuity and problems with depth perception. This loss of vision can often be corrected but not cured.

Ocular albinism affects the optic nerve and inhibits the ability to transmit a clear image to the visual cortex. 

Retinal development typically includes a migration of the inner layers of the retina, though this process is stunted in cases of ocular albinism. Because the retina doesn’t develop correctly, vision is often blurry.

Treatment of Ocular Albinism

There is no cure for ocular albinism, and any vision loss is permanent.

The primary treatment for this condition is corrective eyewear, including glasses and contact lenses, that can help improve vision sharpness and clarity. Individuals with ocular albinism may prefer to wear dark glasses or a hat to block or dim the light of the sun, such as in cases of photophobia. 

There are some investigational therapies currently being studied. For example, researchers are currently investigating the effects of experimental gene-based therapies to correct or reduce genetic errors that lead to the experience of symptoms of ocular albinism. 

This therapy has demonstrated success in studies involving animal models, but further research is needed in order to determine the impact of gene therapies in human subjects, as well as whether or not there are any side effects that may occur.

Living With Ocular Albinism

While some symptoms of ocular albinism may be challenging, vision can often be corrected with glasses or contacts. Symptoms do not worsen over time, though any vision loss is permanent.

Individuals with ocular albinism can alleviate symptoms by modifying their environment as well, such as adjusting the lighting in their homes and always being equipped with devices that may be helpful in seeing objects in different situations. These tools can be helpful:

• A magnifying glass to help see objects up close in bright lights
• Sunglasses or tinted eyewear
• A hat
• A light to shine behind the shoulder instead of in front where it can disturb vision

People with ocular albinism should get regular eye exams to ensure that they always have adequate corrective eyewear. With the right tools, vision can be largely corrected.

References

1. Albinism. National Health Service.

2. Ocular Albinism. National Library of Medicine.

3. Characterization of Abnormal Optic Nerve Head Morphology in Albinism Using Optical Coherence Tomography. (July 2015). Investigative Ophthalmology & Visual Science.

4. Current and Emerging Treatments for Albinism. (March–April 2021). Survey of Ophthalmology.

5. Ocular Albinism. National Library of Medicine.

6. Ocular Albinism. National Organization for Rare Diseases.

7. The Ocular Albinism Type 1 Protein, an Intracellular G Protein-Coupled Receptor, Regulates Melanosome Transport in Pigment Cells. (November 2008). Human Molecular Genetics.

8. Retinal Development in Albinism: A Prospective Study Using Optical Coherence Tomography in Infants and Young Children. (February 2015). Lancet.

9. Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives. (May 2022). Clinical Ophthalmology.