Abstract：
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.
journal_name
Ophthalmologyjournal_title
Ophthalmologyauthors
Goldberg MF,Custis PHdoi
10.1016/s0161-6420(93)31422-3subject
Has Abstractpub_date
1993-11-01 00:00:00pages
1645-54issue
11eissn
0161-6420issn
1549-4713pii
S0161-6420(93)31422-3journal_volume
100pub_type
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