Albinism, Oculocutaneous, Type VII

Background and History: 

Albinism results from a lack of pigmentation most evident in the hair, skin, and eyes.  The condition has been known since antiquity.  In fact, the biblical Noah is claimed by some to have been an albino.  Multiple types have been described and all are caused by mutations in genes that are involved in the synthesis of pigment.

Clinical Correlations: 

Albinism can be detected at birth from the light hair and skin color.  Abnormal movements of the eyes (nystagmus or ‘dancing eyes’) are often evident within 6 months.  Vision is subnormal to a variable extent but stable.  In Type V the pigmentation is variable with hair color ranging from blond to dark brown.  It is not known if hair and skin color darkens as individuals mature.

There is a reduced amount of pigment in the iris and in the inside of the eye (the retina).  A critical part of the retina used for detailed vision (the fovea) is not fully developed which likely plays a role in the reduction of vision.  Individuals with Type V albinism seem to be less sensitive to bright light than people with some other types of albinism.


This is an autosomal recessive disorder caused by two mutations in a gene which requires that both normally pigmented parents carry a single mutation.  Such parents have a risk of 25% that each of their children will be albinos of this type.

Diagnosis and Prognosis: 

It is likely that pediatricians will make the diagnosis of albinism and this can be confirmed by an ophthalmologist based on the eye findings.  Genotyping is required to document which type of oculocutaneous albinism is present.  General health is usually good and there is no impact on longevity.  No treatment for the lack of pigmentation is available but visual function may be improved with the help of low vision aids.

Additional Information