Albinism & The Eyes

Overview

Albinism is a genetic condition that affects approximately 1 in 17,000 people in the United States. It is a condition in which the pigment (melanin) that is necessary to give color to our skin, hair, and eyes is either completely or partially absent. In the event of complete absence of pigment, the hair and skin appear white, and the iris is a very pale blue. In cases of partial pigment absence, skin and hair may appear very light tan or slightly red while eyes can appear anywhere from brown to light blue.

Most people have at least heard that albinos have red eyes, which of course does appear to be true when you look at them. The appearance of red, however, is simply a reflection of the blood vessels within the eye. Without a pigmented iris to absorb and block light, the reflection of the blood vessels is seen by an observer, making the eyes of an albino appear red. It is similar to the red eye from photographs, but in albinism, simple daylight gives rise to the appearance of red eyes and not just a camera flash. It is also important to realize that not all cases of albinism will result in the appearance of red eyes.

Melanin is crucial to vision in that it absorbs excess scattered light in the eye, creating something of a black-box effect. By absorbing scattered light, melanin enables the retina to focus more clearly on rays of light that are directed to the fovea. Without melanin, vision problems are imminent, and vision problems experienced by albinos are plentiful.

There are two general categories of albinism, the first being oculocutaneous albinism. As the name suggests, this is a form of albinism that affects both the skin and the eyes. Such individuals will have widespread pigment loss. Vision problems in individuals with oculocutaneous albinism include photophobia (light sensitivity), very poor visual acuity (ability to see clearly), and erratic eye movements (nystagmus). In the second category, ocular albinism, only the eyes are affected by pigment loss while skin and hair appear normal.

Detection & Diagnosis of Albinism

Albinism is present from birth and is generally diagnosed based on the appearance of the infant.

Albinism Treatment

There is no treatment or cure for albinism. Individuals with albinism must practise extreme caution when outside by wearing strong broad-spectrum sunscreen and dark sunglasses.

References

National Organization for Albinism & Hypopigmentation

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