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July 1991

Congenital Cystic Eye With Multiple Ocular and Intracranial Anomalies

Author Affiliations

From the Departments of Ophthalmology (Drs Pasquale, Romayananda, and Chan) and Diagnostic Imaging (Dr Johnson), Temple University Hospital, Philadelphia, Pa, and the Department of Ophthalmology, St Christopher's Hospital for Children, Philadelphia (Dr Kubacki).; Dr Pasquale is currently a glaucoma fellow at the Wilmer Institute, The Johns Hopkins Hospital, Baltimore, Md. Dr Johnson is currently affiliated with the Department of Radiology at the Medical College of Virginia, Virginia Common-wealth University, Richmond.

Arch Ophthalmol. 1991;109(7):985-987. doi:10.1001/archopht.1991.01080070097044

• We describe a newborn with congenital cystic eye, contralateral persistent hyperplastic primary vitreous, and cerebrocutaneous abnormalities. The cerebrocutaneous abnormalities consisted of agenesis of the corpus callosum, mid-brain deformity, malformed sphenoid bone, right upper eyelid coloboma, and a left periocular hamartoma. The results of karyotype analysis of the patient and his parents were normal. The association of congenital cystic eye with contralateral persistent hyperplastic primary vitreous has not been previously reported, to our knowledge. Although no unifying diagnosis exists for the collection of anomalies demonstrated in this patient, the term cranial ectodermopathy broadly classifies most of the defects.

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