Incontinentia pigmenti (Bloch-Sulzberger syndrome) and retinal changes.
Incontinentia pigmenti is associated with various anomalies in 80% of cases. Among the most important are the ocular abnormalities and more particularly a retrolental mass with detachment of a dysplastic retina. At the basis of this manifestation are retinal vascular changes, characterised at first by ectatic tortuous veins and arteriovenous anastomoses as well as by aneurysmal-like dilatations.
D000015:Abnormalities, Multiple; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D012160:Retina / Q000002:abnormalities*; D012171:Retinal Vessels / Q000473:pathology; D012867:Skin / Q000473:pathology; D013577:Syndrome