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.
D002648:Child; D005260:Female; D006801:Humans; D009389:Neovascularization, Pathologic / Q000473:pathology; D010859:Pigmentation Disorders / Q000150:complications / Q000175:diagnosis*; D012164:Retinal Diseases / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D012171:Retinal Vessels / Q000473:pathology