Eyeworld

91 EW CORNEA October 2018 Contact information Bonzano: chiarabonzano@ymail.com Dr. Bonzano explained. "The PAX6 impaired function of basal limbal stem cells and basal corneal epitheli- al cells lead to a lowered expression of alpha-enolase, which is a marker of stem cell metabolism. We see an associated ingrowth of vessels due to increased levels of VEGF, lead- ing to the development of AAK, an increased extent of apoptosis, disturbances in tear fluid lipidome, increased oxidative stress, genera- tion of ROS, and increased inflam- mation." Further examinations such as corneal cytology revealed the presence of goblet cells and a renal ultrasound was negative for con- genital urinary anomalies, which have been associated with PAX6 mutations in the context of WAGR syndrome (Wilms tumor, anirid- ia, genitourinary anomalies, and mental retardation). Also, confocal imaging and slit lamp photographs of the patient's eye revealed a thick- ening and vascularization of the peripheral cornea. White opacities in the corneal periphery were noted that are typical of aniridia associated keratopathy. In an unrelated retrospective cohort study of 275 eyes of 138 patients, medical records of patients diagnosed with congenital aniridia between 1991 and 2006 were re- viewed for the prevalence of central corneal opacity (CCO), which is present at birth, and AAK, which de- velops progressively with advancing age in these patients. The inves- tigators found that 13% (35 eyes, 20 patients) had CCO. Twenty-five percent (68 eyes, 35 patients) devel- oped AAK. AAK became prominent at a mean age of 21.6 years of age, and the severity progressed with age. The visual outcome was worse in patients with CCO than with AAK. Cataract frequently occurred in AAK patients (78%) who required cataract surgery at a mean age of 26.6 years of age. Glaucoma was more prevalent in the patients with CCO (74%) than in those with AAK (37%), the study showed. 2 EW References 1. Davis LK, et al. Pax6 3' deletion results in aniridia, autism and mental retardation. Hum Genet. 2008;123:371–8. 2. Lee HK, et al. Corneal abnormalities in congenital aniridia: congenital central corneal opacity versus aniridia-associated keratopa- thy. Am J Ophthalmol. 2018;185:75–80. Editors' note: Dr. Bonzano has no financial interests related to her comments. MARK YOUR CALENDAR OIS 2019 GO INSIDE THE STORIES THAT MATTER Don't miss out on what's next! Subscribe to the OIS Podcast to hear perspectives and strategies from physicians, entrepreneurs, executives and investors who are leading the fight to create new treatments for eye disease. STAY UPDATED ON THE LATEST NEWS In each issue, you'll receive original insights and analysis from the OIS Editorial Staff, highlighting newsmakers of every stage – from entrepreneurs to corporate leaders. You'll also see video highlights from recent OIS events – company presentations, keynote conversations and original interviews – along with links to the latest episode of the OIS Podcast. Sign up today at www.ois.net/subscribe/ www.ois.net MAY 2, 2019 SAN DIEGO JULY 25, 2019 CHICAGO OCTOBER 10, 2019 SAN FRANCISCO FEBRUARY 21, 2019 NEW ORLEANS UNITING THE LEADERS OF GROUND-BREAKING OPHTHALMIC TECHNOLOGIES

• Cover