Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) affects the skin, brain, and eyes. Extraocular features are summarized in Table 28-8, with examples of skin lesions shown in Figure 28-21. The condition has an X-linked dominant inheritance pattern, with a presumed lethal effect on the hemizygous male fetus.
Ocular involvement occurs in 35%–77% of cases and tends to be unilateral or very asymmetric if bilateral, typically in the form of proliferative retinal vasculopathy that closely resembles retinopathy of prematurity. At birth, the only detectable abnormality may be incomplete peripheral retinal vascularization. Abnormal arteriovenous connections, microvascular abnormalities, and neovascular membranes develop at or near the junction of the vascular and avascular retina (Fig 28-22). Rapid progression sometimes leads to total retinal detachment and retrolental membrane formation within the first few months of life. Microphthalmia, cataract, glaucoma, optic atrophy, strabismus, and nystagmus may occur, usually secondary to end-stage retinopathy.
Table 28-8 Extraocular Features in Incontinentia Pigmenti
Figure 28-21 Pigmented skin lesions of incontinentia pigmenti. A, Bullous lesions. B, Hyperpigmented macules.
(Courtesy of Edward L. Raab, MD.)
Figure 28-22 Vascular abnormalities of the temporal retina, right eye, in a 2-year-old with incontinentia pigmenti. Note the avascularity peripheral to the circumferential white vasoproliferative lesion, which showed profuse leakage on fluorescein angiography.
Sequential retinal evaluations for the first 1–2 years of life are necessary to identify eyes that require treatment. The retinopathy of IP has been managed by photocoagulation or cryotherapy with varying degrees of success. Treatment is usually applied primarily to the avascular peripheral retina, as in the management of retinopathy of prematurity.
O’Doherty M, Mc Creery K, Green AJ, Tuwir I, Brosnahan D. Incontinentia pigmenti—ophthalmological observation of a series of cases and review of the literature. Br J Ophthalmol. 2011;95(1):11–16.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.