The blinding mechanisms of incontinentia pigmenti

The ocular and cerebral abnormalities associated with incontinentia pigmenti, an X-linked dominant disease with characteristic cutaneous features, are far worse than the name would indicate. Although some patients have normal vision, total blindness or permanent visual deficiency may occur. Retinal vascular abnormalities, involving the periphery as well as the macula, appear to represent the primary disease process in the eye. Retinal detachment may then ensue, due to mechanisms that seem analogous to those of retinopathy of prematurity. Optic nerve atrophy and occipital lobe infarction are additional causes of severe visual dysfunction in some patients. For the first time, neonatal infarction of the macula is documented in this disease. The purpose of this report is to describe the visually disabling ocular and cerebral manifestations in five selected cases of incontinentia pigmenti.