Ocular Albinism: Frequently Asked Questions

Human albinism can be divided broadly into two types, 'Oculocutaneous Albinism (OCA)' and 'Ocular Albinism (OA)'. These terms were devised in the late 1940s, when medical science was less sophisticated than it is now. The terminology sounds simple, but in reality is probably incorrect, since all forms of albinism have relative deficiencies of pigment in the hair, skin, and eyes. ...

Glasses can be prescribed for reduced visual acuity. The appearance of strabismus may be improved by surgery; however, surgery will not correct the misrouting of nerves from the eyes to the brain, and will not provide fine binocular vision. For people with sensitivity to light, sunglasses or tinted contact lenses can be worn. Patients should consult with an ophthalmologist who can provide the appropriate level of care necessary. ...

Albinism is a genetic disease where there is little or no pigment, known as melanin, in the eyes, hair and skin. Ocular albinism is also an inherited condition where the eye is primarily affected. A person with ocular albinism can often have "normal toned" hair and skin. The amount of pigment in the eye of a person with ocular albinism varies. Some people with this condition can even have hazel or brown eyes. ...

Ocular Albinism (OA) results from the inability of the normal pigment cells in the eyes (especially the iris and the retinal pigment epithelium) to produce normal amounts of pigment.

Unfortunately, people with albinism always have problems with their vision. The lack of pigment in the eyes can cause nearsightedness, farsightnedness, astigmatism, nystagmus (involuntary movement of the eye), strabismus (crossed-eyes) and sensitivity to light.

Usually there are no developmental problems associated with ocular albinism but in rare occasions when there is a chromosomal deletion within the gene it can result in deafness, developmental retardation, and mildly shortened stature.

Two features affect the final visual outcome. Underdevelopment of the center vision of the retina (the 'fovea') does not allow the 'film of the retina' to take an accurate picture and thus transmit an accurate picture to the brain. Second, because both the transmission of images and the balance of wiring from each eye to each side of the brain are altered, the brain cannot interpret the impulses correctly and the image is less than perfect. ...

Sometimes, very little other than the gene which causes them. The vision problems experienced by those with OA and OCA are virtually the same. The hair color and skin pigment can vary significantly between OA and OCA, even though those with either condition typically have reduced pigment compared to unaffected siblings.

A test called a Visually Evoked Potential (VEP), or sometimes called a Visually Evoked Cortical Potential (VECP), is performed like an EEG or brain wave test. This test will show, when each eye is stimulated independently, the differences of transmission from the stimulated eye to each side of the brain. However, in infants, since the visual pathways continue to develop until at least 7-9 years of age, nothing in an infant will predict exactly what the final visual acuity will be.