Eyeworld

EW CORNEA 90 October 2018 by Stefanie Petrou Binder, MD, EyeWorld Contributing Writer pic factors has proven to have a beneficial effect that was superior to conventional therapy, improving AAK and providing better subjective comfort." Genetic testing was positive for the paired box gene 6 (PAX6) mutation, a deletion involving chromosome 11p13, which is neces- sary for the production of a protein involved in early eye development. The PAX6 gene encodes a tran- scription factor that is involved in several developmental pathways, predominantly in the eye, brain, and pancreas. It is associated with aniridia, Peter's anomaly, and kera- titis. 1 "The changes associated with PAX6 deletion are progressive and include a thickening and vascular- ization of the peripheral cornea," approximately 15 days, corneal healing was evident. The cornea markedly improved both visually and with respect to improvements in visual acuity, signifying a healed corneal epithelial defect. Despite the healing process, the best corrected visual acuity (BCVA) was improved but still limited by foveal hypopla- sia. Both eyes achieved 20/200, and the IOP was reduced to 19 in the right eye and 18 in the left eye. "In this case study, corneal epithelial metaplasia and tear sta- bility improved significantly with treatment," Dr. Bonzano said. "The patient's visual acuity showed only a slight improvement, however, due to the foveal hypoplasia that was evident in this case. Autologous serum by providing epitheliotro- aminetetraacetic acid (EDTA) che- lation treatment for calcified band keratopathy. The patient's medical history was negative for diabetes, positive for mild hypertension, anxiety/depression, and congenital aniridia. Her relevant family history revealed that the patient's father died of a stroke and her mother died of complications related to lung cancer. Otherwise, the patient was a non-smoker, and she did not drink alcohol or take drugs. Dr. Bonzano began with a slit lamp examination, which revealed conjunctival hyperemia, an epitheli- al defect that stained positively with fluorescein, and an iris rudimentary stump imaged by gonio photog- raphy, in the patient's right eye. She evaluated corneal sensitivity by using a corneal Cochet-Bonnet contact aesthesiometer, and it was decreased. The patient's right-sided visual acuity was very low, per- ceiving hand movements. The left eye revealed the presence of an iris stump as well and the visual acuity on the left side was 20/200. Ocular motility exams showed bilateral nystagmus. The intraocular pressure was elevated in both eyes, 30 mm Hg in the right eye and 28 mm Hg in the left eye. Treatment of epithelial defect and symptoms Dr. Bonzano started the patient on preservative-free anti-glaucoma medication drops to reduce the IOP and considered her options for the management of the persistent epi- thelial defect, which along with the presence of bilateral rudimentary iris stumps suggested the existence of aniridia-associated keratopathy. She prescribed preservative-free artificial tears in 2-hour intervals, prophylactic topical ofloxacin four times daily, and patched the patient's eye with vitamin oint- ments at nighttime. After 7 days, the corneal defect improved but was not completely healed. To aid in the healing process and protect the eye, she opted to apply a soft therapeutic contact lens, which was removed due to fit issues. At this point, the treatment plan was switched to include the application of autolo- gous serum 40% every 2 hours. After Clinician shares her experience in the diagnosis and treatment of a patient with eye pain and reduced vision due to aniridia A niridia is a congenital, hereditary disease that affects an individual's eyes bilaterally and is an extreme form of iris hypoplasia in which the iris appears to be absent on routine clinical ex- amination. Gonioscopy reveals the presence of an iris root, however, and more extensive examinations can show the full disorder involving macular and optic nerve hypopla- sia, cataract, and corneal changes, which all contribute to reduced vi- sual acuity and the presence of nys- tagmus. The incidence of aniridia is estimated between 1:64,000 and 1:100,000, and the ocular surface in eyes with this congenital anomaly can often be affected by a progres- sive pathology known as aniridia-as- sociated keratopathy (AAK) that is thought to contribute to impaired vision. Recognizing congenital aniridia A case report presented at the 22nd ESCRS Winter Meeting discussed a case of aniridia and the complexi- ties of management. The case study report was presented by Chiara Bonzano, MD, FEBO, Policlinico San Martino, University of Genoa, Italy, who treated the patient in question, whose initial complaints were headaches and eye pain. The patient was a 46-year- old female who was started on a regimen of topical broad spectrum antibiotic drops, as prescribed by an outside ophthalmologist, with- out symptomatic improvement. After an initial eye examination at the polyclinic, she was referred to the corneal department due to a persistent right-sided corneal epithelial defect that developed over a 9-week period. The patient had a history of cataract surgery with phacoemulsification and lens implantation, had undergone a null point surgery for nystagmus, and underwent right-sided ethylenedi- Successful treatment of non-healing corneal epithelial defect in patient affected by congenital aniridia Presentation spotlight Aniridia-associated keratopathy before autologous serum Aniridia-associated keratopathy after 2 weeks of autologous serum Source (all): Chiara Bonzano, MD

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