Incontinentia Pigmenti Symptoms

Eye abnormalities are present in about one-third of all people with incontinentia pigmenti (IP). They include disorders of the lens, optic nerve, retina, and muscles of the eyes. Approximately one-third of girls with IP have a turned eye. These girls should be examined by an ophthalmologist (a doctor who specializes in treating conditions of the eye) to help prevent more serious visual problems.

More than 90% of people with IP have normal vision, but some have a problem with the blood vessels in the back of the eye (retina). If this occurs, it usually only causes a problem with one eye. Girls with IP should have their eyes checked as soon as IP is diagnosed and then each month for the following few months. Afterward, their eyes should be checked every three months for their first year of life.

The retinal abnormalities in IP are due to the blockage of small blood vessels in the retina. This is similar, in some respects, to the retinal disorder that affects some premature newborns, although babies with IP are not usually born prematurely. These retinal abnormalities can lead to detached retinas and bleeding into the eye.

This blockage of small blood vessels also affects the brain, potentially causing seizures and other mental disorders. People with retinal disorders that result from IP are more likely to have brain disorders, and babies with brain abnormalities are more likely to have the retinal abnormalities of IP. These brain and eye abnormalities may not be present or recognizable at birth but may develop, sometimes rapidly, over the first few weeks of life.