Bloch-sulzberger syndrome (incontinentia pigmenti; siemens-bloch-sulzberger syndrome)  157

General: Familial disorder affecting ectoderm; manifestations at birth; female predominance; X-linked dominant ph 313g66d enotype; disturbance of skin pigmentation.

Ocular: Orbital mass; retrolental fibroplasia; pseudoglioma; strabismus; blue sclera; cataract; optic nerve atrophy; papillitis; nystagmus; chorioretinitis; anomalies of chamber angle; neovascularization of retina; retinal hemorrhages and edema; microphthalmia; tractional retinal detachment.

Clinical: Dental and skeletal anomalies common; neurologic abnormalities; recurrent inflammatory lesions; skin melanin pigmentation on the trunk: (marble cake); occipital lobe infarct; neonatal infarction of the macula.

Berbich A, et al. Ocular findings in a case of incontinentia pigmenti (Bloch-Sulzberger syndrome). Ophthalmologica 1981; 182:119-l29.

Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). Ophthalmology 1993; 100:1645-l654.

Goldberg MF, The blinding mechanisms of incontinentia pigmenti. Ophthalmic Genet 1994; 15:69-76.

Jain RB, Willetts GS. Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report. Br J Ophthalmol 1978; 62:622-626.

Mensheha MO, et al. Retinal pigment epithelium in incontinentia pigmenti. Am J Ophthalmol 1975; 79:571-577.

Wald KJ, et al. Retinal detachments in incontinentia pigmenti. Arch Ophthalmol 1993; 111:614-617.

Watzke RC, et al. Retinal vascular changes of incontinentia pigmenti. Arch Ophthalmol 1976; 94:743-746.