Eyeworld

4 | SUPPLEMENT TO EYEWORLD | JANUARY/FEBRUARY 2020 Sonia H. Yoo, MD Detection and management of corneal disorders in the New tools assist in preoperative screening and postoperative management N ew diagnostic tests are emerging for preop- erative screening and postoperative imaging of irregular corneas. Genetic testing A genetic test has been intro- duced to identify transforming growth factor beta-induced (TGFBI) gene corneal dystro- phies. This class of dystrophies test, cases may not be as appar- ent they anticipate. A 21-year-old woman ini- tially was qualified for LASIK based on her slit lamp exam- ination, but her 47-year-old mother had a few small white corneal opacities. Both patients were screened and had positive genetic results for GCD2. This is a heterozygous corneal dystrophy where the phenotype is subtle and can be missed easily, especially in younger patients. Screening should be performed in patients young- er than 40 years old from a high-risk demographic who show any unexplained stromal opacities. arises from a single point mutation in the TGFBI gene, and the genetic mutations are responsible for five corneal dystrophies: granular corneal dystrophy (GCD) types 1 and 2, lattice dystrophy, Reis-Bückler, and Thiel-Behnke. These gene mutations lead to unpredictable responses after laser refractive surgery and are a contraindica- tion for these procedures. The preoperative test involves a cheek swab that can be performed by a technician or physician. It has a 100% sensitivity and specificity for these dystrophies. Results are received within 2–4 days via a secure web portal. This test is not reimbursed by insurance for refractive screening, but it may be covered if it is medically necessary; therefore, an advance beneficiary notice is recom- mended. Case examples Although physicians may believe they can identify these dystrophies without the genetic by Sonia H. Yoo, MD Topographic analysis of a 28-year-old refractive surgery candidate showing significant coma Source: Sonia H. Yoo, MD New approaches to the diagnosis and management of important corneal disorders in the cataract and refractive surgery patient References 1. Allen VD, Malinovsky V. Management of neurotrophic keratopathy. Cont Lens Anterior Eye. 2003;26:161–5. 2. Weissman BA, Mondino BJ. Risk factors for contact lens associated microbial keratitis. Cont Lens Anterior Eye. 2002;5:3–9. 3. Donnenfeld ED, et al. Cyanoacrylate temporary tarsorrhaphy in the man- agement of corneal epithelial defects. Ophthalmic Surg. 1991;22:591–3. 4. Naik MN, et al. Anterior chemo- denervation of levator palpebrae superioris with botulinum toxin type-A (Botox) to induce temporary ptosis for corneal protection. Eye (Lond). 2008;22:1132–6. 5. Bonini S, et al. Phase II randomized, double-masked, vehicle-controlled trial of recombinant human nerve growth factor for neurotrophic keratitis. Oph- thalmology. 2018;125:1332–43. 6. Pflugfelder SC, et al. Topical recombinant human nerve growth factor (cenegermin) for neurotrophic keratopathy: a multicenter random- ized vehicle-controlled pivotal trial. Ophthalmology. 2019 Aug 26. pii: S0161-6420(19)31950–5. Dr. Yeu is an assistant professor of ophthalmology at Eastern Virginia Medical School and is in private practice in Norfolk, Virginia. She can be contacted at eyeu@ vec2020.com. continued from page 3 continued on page 5

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