Albinism

Albinism is an inherited condition that is present at birth. In albinism, there is a lack of or a reduced amount of the pigment that produces the color for skin, hair and eyes. This pigment is called melanin. There are two types of albinism: one where only the eye (ocular albinism) is affected; and the other which involves the skin, hair and eyes (oculocutaneous albinism or OCA).

One person in 17,000 has some type of albinism. Albinism can affect people from all races and genders. It is passed down from parents to their children through their genes. In addition to ocular albinism, there are 4 types depending on the type of genetic defect.

What are symptoms of Albinism in the eyes?

No matter the specific genetic type of Albinism, the symptoms will be similar. The genes will determine the severity of the symptoms in each patient.

The symptoms common in Albinism include the following:

• Nystagmus: Involuntary eye movements or “shaking”
• Foveal hypoplasia: The central part of the retina (the inside part of the eye that perceives light and acts like the “camera film”) does not develop normally before birth and during infancy. This causes the vision to be decreased.
• Abnormal head position: The child develops a preferred head position to decrease the abnormal eye movements (nystagmus) and optimize their vision.
• Photophobia: sensitivity to bright lights and glare.
• Strabismus: misalignment of the eyes
• Iris, globe and retinal hypopigmentation: the iris (the colored area in the center of the eye) has no color to block out the light and it is easy to see through. The rest of the eye does not have normal coloration.
• Refractive errors: patients may need glasses to correct for far-sightedness (hyperopia), near-sightedness (myopia) or astigmatism.
• Optic nerve misrouting: the nerve signals from the retina to the brain do not follow the normal routes.
• Vision can range from normal for those minimally affected to legal blindness (vision less that 20/200) or worse for those with more severe forms of albinism. Near vision is often better than distance vision. Generally, those who have the least amount of pigment have the poorest vision.

Who gets Albinism?

Albinism is passed from parents to their children through genes. 

For most types of OCA, both parents must carry an albinism gene to have a child with albinism. The parents may have normal pigmentation but still carry the gene. When both parents carry the gene, and neither parent has albinism, there is a 25% chance at each pregnancy that the baby will be born with albinism.

For OA, the gene for albinism is located on an X chromosome. Females have two X chromosomes, while males have one X chromosome and one Y chromosome. X-linked ocular albinism appears almost exclusively in males. The gene for it is passed from mothers (who carry it without developing the condition) to their sons. The mothers have subtle eye changes that an ophthalmologist could identify, but they generally have normal vision. For each son born to a mother who carries the gene, there is a 50% chance of having X-linked ocular albinism.

What is the treatment for Albinism?

Albinism is a lifelong condition that does not worsen over time. Although there is no way to treat poor or absent production of the pigment or correct abnormal vision development, a proper eye evaluation and management are essential. There are many aids that can be provided to maximize the vision as much as possible. Glasses can be prescribed to improve vision and decrease light sensitivity. The abnormal head position and nystagmus can be improved with surgery. Eye misalignments can be treated with glasses or surgery as well. 

Lifestyle adjustments can also be made to help patients with reduced visual acuity associated with albinism. Students may need visual aids to maximize vision in the classroom. Students, parents and teachers should work as a team to consider preferential seating, lighting and optical aids to help with social and emotional growth. A low vision specialist can guide and help the patients and families with these recommendations.

Albinism does not typically cause intellectual disabilities and children with albinism usually have normal intelligence.

In addition, individuals with albinism are more susceptible to sunburn and skin cancer. Sunscreen and wide brim hats, as well as sunglasses and/or prescription lens tint are strongly encouraged. 

Are there any other medical conditions associated with Albinism?

There are two rare conditions that can affect patients with albinism.

Hermansky-Pudlak Syndrome (HPS) is associated with bleeding problems and bruising. Some forms are also associated with lung and bowel disease. HPS is a less common form of albinism but should be suspected if a person with albinism shows unusual bruising or bleeding.

Chédiak-Higashi syndrome is a rare disorder that affects multiple systems of the body. Symptoms are a weakness to infections, anemia (low blood count), and  hepatomegaly (enlarged liver).