Proliferative retinopathy associated with incontinentia pigmenti

An 8-year-old white female presented with retinal vascular changes of fibrovascular proliferation and avascularity of the peripheral retina that suggested a diagnosis of incontinentia pigmenti. These findings prompted a systemic evaluation, and the features of this disease were confirmed, including a history of recurring vesicles on the lower extremities of her sister in infancy. Associated systemic findings in the patient included alopecia, apigmented skin lesions, conical teeth, and a confirmatory biopsy. This case illustrates that a clinical recognition of eye findings can be of assistance in correctly diagnosing such forme fruste cases.