CASE REPORTS
JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
RESEARCH SUPPORT, U.S. GOV'T, P.H.S.
Add like
Add dislike
Add to saved papers

Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome).

Ophthalmology 1993 November
BACKGROUND: One of the largest series of patients with incontinentia pigmenti who have undergone detailed ophthalmologic examination is reported here, including previously unrecognized findings with visually disabling consequences.

METHODS: Thirteen females with incontinentia pigmenti from eight unrelated families were evaluated. The diagnosis of incontinentia pigmenti had been established previously by a referring pediatrician or dermatologist in 12 patients and by the authors in one other patient on the basis of retinal findings and history of characteristic skin manifestations.

RESULTS: Abnormalities of the eye, central nervous system, skeleton, teeth, and hair develop in a majority of patients. The authors describe the evolution of retinal vascular abnormalities, and, for the first time, document foveal hypoplasia (in 4 of their 13 patients). The authors also provide the first report of a child with a normal brain shown on computed tomographic scan at 3 days old, which evolved to devastating cerebral ischemia, edema, and cortical blindness beginning at 6 days old.

CONCLUSIONS: Incontinentia pigmenti should be included in the differential diagnosis of patients with peripheral retinal vascular nonperfusion, preretinal neovascularization, infantile retinal detachment, or foveal hypoplasia, particularly if there is evidence of characteristic dermatologic or other systemic manifestations. In infants with incontinentia pigmenti, retinal vascular anomalies are best detected by examination under anesthesia using fluorescein angiography.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

For the best experience, use the Read mobile app

Mobile app image

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

By using this service, you agree to our terms of use and privacy policy.

Your Privacy Choices Toggle icon

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app