Abstract
Dr. Wong seeks clarification of the location of the biopsy in patients with bilateral disease. As stated in our Methods section, we took biopsies from the superior forniceal conjunctiva in these patients (1). Aniridia is a bilateral disease. Our patient with aniridia had superior bulbar conjunctival biopsies taken at the fornix. This site is believed to contain conjunctival stem cells (2–4). Dr. Wong is correct in stating that the patient with aniridia has a human iris. Aniridia is a rare congenital condition that presents with a range of ocular signs and is due to failure of the eye to develop fully. Signs of aniridia include iris hypoplasia, nystagmus, glaucoma, cataract, keratopathy from limbal stem-cell failure, and foveal and optic nerve hypoplasia. There is heterogeneity in the phenotypic expression of aniridia (5–7), such that in our patient, aniridia presented with a normal or near normal iris. Nick Di Girolamo Department of Pathology School of Medical Sciences University of New South Wales Sydney, Australia Stephanie L. Watson Department of Ophthalmology Prince of Wales Hospital Sydney, Australia
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