Abstract • 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. References 1. Duke-Elder S. System of Ophthalmology . St Louis, Mo: Mosby-Year Book; 1963;3(part 2):451-453. 2. Werry H, Ries P. Congenital cystic eye . Klin Monatsbl Augenheilkd . 1978;172:888-894. 3. Baghdassarian SA, Tabbarra KF, Matta CS. Congenital cystic eye . Am J Ophthalmol . 1972;76:269-275. 4. Helveston EM, Malone E Jr, Lashmet MH. Congenital cystic eye . Arch Ophthalmol . 1970;84:622-624.Crossref 5. Dollfus MA, Marx P, Langlois J, Clement JC, Forthomme J. Congenital cystic eyeball . Am J Ophthalmol . 1968;66:504-509. 6. Waring GO III, Roth AM, Rodriguez MM. Clinicopathologic correlation of microphthalmos with cyst . Am J Ophthalmol . 1972;82:714-721. 7. Rice NS, Minwalla SP, Wania JH. Case of congenital cystic eye and accessory limb of the lower eyelid . Br J Ophthalmol . 1966;50:409-413.Crossref 8. Pillai AM, Rema, Sambasivan M. Congenital cystic eye: a case report with CT scan . Indian J Ophthalmol . 1987;35:88-91. 9. Gordon RA, Donzis PB. Refractive development of the human eye . Arch Ophthalmol . 1986;103:785-789.Crossref 10. Sampaolesi R, Caruso R. Ocular echometry in the diagnosis of congenital glaucoma . Arch Ophthalmol . 1982;100:574-577.Crossref 11. Renard G, Fountaine M, Dhermy P, Caquet N. Microphtalmie bilaterale avec kystes orbitaires associee appendices faciaux surnumeraires . Bull Soc Ophtalmol Fr . 1964;77:297-316. 12. Jain KK, Bhandari GJ, Korrone SP. Histogenesis of the human eyelid . Eastern Arch Ophthalmol . 1973;3:8-16. 13. Al-Gazali LI, Donnai D, Berry SA, Saay B, Meuller RF. The oculocerebrocutaneous (Delleman) syndrome . J Med Genet . 1988;25:773-778.Crossref 14. Sacks JG, Lindenberg R. Efferent nerve fibers in the anterior and visual pathways in bilateral cystic eyeballs . Am J Ophthalmol . 1969;68:691-695. 15. Mann I. Development Abnormalities of the Eye . New York, NY: Cambridge University Press; 1937:37.
Archives of Ophthalmology – American Medical Association
Published: Jul 1, 1991
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