Eyeworld

75 EW FEATURE September 2015 World Cornea Congress highlights in addition to inheritance patterns, gene involvement, and clinical signs and symptoms. Electron micro- graphs and histopathology images are also included to complement traditional clinical photographs. Genetic testing is not just for pediatrics As physicians gain a better under- standing of the genetics of corneal disease, they have begun to ask the question: Is there any use in testing adults for genetic corneal disorders? While many ophthalmologists believe the answer is no, Anthony Aldave, MD, professor of ophthal- mology and chief of the cornea ser- vice, Stein Eye Institute, Los Angeles, showed one situation where it is useful—during preoperative testing for keratorefractive surgery. Some corneal dystrophies are contraindications for LASIK because the surgery can exacerbate symp- toms and stimulate opacity forma- tion in the cornea. But patients with corneal dystrophies that are associat- ed with a later onset of the dystro- phic deposits could decide to have refractive surgery before the corneal opacities appear—or when present but so subtle they may be easily overlooked or misdiagnosed. Dr. Aldave presented several cas- es where patients with corneal opac- ities underwent refractive surgery. In one case, a patient presented with a few corneal opacities diagnosed as corneal scars during the preop exam. The patient had no known family history of corneal disease. Several years after surgery, however, the patient developed a significant exacerbation of the corneal opacities and reduced vision. Genetic testing confirmed that the patient had gran- ular corneal dystrophy type II. Dr. Aldave described another refractive patient who had normal topography and corneal thickness at the preop exam. The patient had subtle endothelial changes in one eye that were suggestive of posterior polymorphous corneal dystrophy (PPCD). Genetic testing to confirm the diagnosis of PPCD, which has re- cently been associated with corneal ectasia, was not performed, however. Following surgery, the patient devel- oped bilateral corneal ectasia. The take-home message from these cases is that it does make sense to do genetic testing on certain pa- tients prior to refractive surgery. Dr. Aldave recommends testing patients who have unexplained corneal stromal or endothelial opacities, and individuals under 40 years of age with Korean or Japanese ancestry, a family history of a TGFBI dystrophy, or a family history of corneal trans- plantation for an unclear reason. Avellino Labs (Menlo Park, Calif.), Asper Biotech (Tartu, Estonia), and the Carver Lab at the University of Iowa (Iowa City) offer commercially available tests for corneal dystrophies that are easy to perform—a DNA sample from blood, saliva, or a cheek swab is all that is needed. If patients test positive for any of the TGFBI corneal dystrophies or PPCD, Dr. Aldave recommended avoiding LASIK. EW Editors' note: Dr. Aldave has finan- cial interests with Avellino Labs. Drs. Nischal and Weiss have no financial interests related to this article. Contact information Aldave: aldave@jsei.ucla.edu Nischal: nischalkk@upmc.edu Weiss: jweiss@lsuhsc.edu US/LAC/14/0008a V ts affiliates. Lacrisert is a trademark of aleant Pharmaceuticals Inte national, Inc. or its affiliates. Bausch + Lomb is a trademark of Bausch & Lomb Incorporated or i ©2014 Bausch & Lomb Incorporated

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