Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report and review of the ocular pathological features.
Incontinentia pigmenti (IP) (Bloch-Sulzberger syndrome) is an X-linked dominant condition usually fatal in males. Shortly after birth affected girls present with a rash followed by pigmentary changes. Abnormalities of the central nervous system and dentition are often present, and ophthalmic problems develop in approximately one-third of patients. The authors present the pathological findings in the skin and eye in a young woman who required enucleation as a result of long-standing retinal detachment and closed-angle glaucoma. A review of published ocular pathology reports indicates that retinal detachment and a fibrovascular retrolental membrane are the commonest intraocular abnormalities in IP. Changes in the retinal pigment epithelium are also prominent, although whether these are primary or secondary remains to be established.
Heathcote
J G
JG
Department of Ophthalmology, Victoria Hospital, London, ON.
Schoales
B A
BA
Willis
N R
NR
D001706:Biopsy; D002648:Child; D005123:Eye / Q000473:pathology; D005128:Eye Diseases / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti / Q000473:pathology*; D012867:Skin / Q000473:pathology; D014463:Ultrasonography