Severe Ocular Surface Disease and Glaucoma in a Newborn With Aniridia

Abstract

Aniridia is a rare panocular hereditary disease that affects development not only of the iris but also of the cornea, conjunctiva, anterior chamber angle, lens, retina, and optic nerve. 1 Callaerts C. Halder G. Gehring W.J. PAX-6 in development and evolution. Ann Rev Neurosci. 1997; 20: 483-532 Crossref PubMed Scopus (386) Google Scholar Virtually all classic aniridia is caused by mutation in PAX6, a homeotic gene that is highly conserved across species and is responsible for regulating eye development. 2 Prosser J. van Heyningen V. PAX6 mutations reviewed. Hum Mutat. 1998; 11: 93-108 Crossref PubMed Scopus (162) Google Scholar It is therefore not surprising that aniridia is not just a disorder of the iris as the name implies but is also a panocular disease. Both the ocular surface disease 3 Mackman G. Brightbill F.S. Optiz J.M. Corneal changes in aniridia. Am J Ophthalmol. 1979; 87: 497-502 Abstract Full Text PDF PubMed Scopus (73) Google Scholar and glaucoma 4 Grant W.M. Walton D.S. Progressive changes in the angle in congenital aniridia, with development of glaucoma. Am J Ophthalmol. 1974; 78: 842-847 Abstract Full Text PDF PubMed Scopus (68) Google Scholar associated with aniridia are typically progressive and age-related, not being clinically evident until after the first few years of life. We present and discuss the unusual case of an aniridic newborn with severe ocular surface disease and glaucoma evident at birth.