The unique association of iris heterochromia with Hermansky Pudlak syndrome

Volume 18 Number 2 / April 2014 REPLY To the Editor: We thank Winter and colleagues for their letter. The technique they describe for Nd:YAG laser capsulotomy is very similar to that described by Chen and colleagues1 except for the modification of the slit-lamp by removing the head piece. Although their technique is an option for Nd:YAG capsulotomy under general anesthesia, we do not feel that it is necessarily safer than our technique.2 The authors mention that the complication of cerebral ischemia in adults undergoing shoulder surgery “can be partially attributed to the decrease in cerebral perfusion pressure in the sitting position.” Friedman and colleagues3 found the prevalence of cerebrovascular events during shoulder surgery in the beach chair or upright position was not found to increase the risk of intraoperative cerebrovascular events. Winter and colleagues maintain that turning the head is safer, but there could be theoretical compression of carotid artery or vein in children with vascular abnormalities. The purpose of our article was to describe our results with performing the procedure in the sitting position, not to describe in detail other reports.3-4 We have found it to be “safe” and felt that it was important to have more description in the literature for discussions and for support of those intuitions or practioners wanting to try this technique. Because of the lack of availability of overhead Nd:YAG laser systems, alternatives are sought with their own risks and benefits. There are different techniques for performing Nd:YAG laser capsulotomy using a slit-lamp delivery system including prone, supine with head turn, and sitting up.1-6 We believe it is of utmost importance to be comfortable with the chosen technique and have adequate operating room personnel and knowledge of the patient’s health. Availability of operating room staff, anesthesiologist comfort with procedure, general patient health, availability of instruments and the ability to make modifications to existing equipment like the slit lamp or surgical chairs make this procedure likely different for different institutions. We agree that their technique is a viable and in some instances easier but do not believe that it is inherently safer. Susannah Longmuir, MD Anna Kitzmann, MD Sarah Titler, MD University of Iowa Hospitals and Clinics Iowa City, Iowa References 1. Chen JA, Fredick DR. Novel technique for Nd:YAG posterior capsulotomy in pediatric patients. J Pediatr Ophthalmol Strabismus 2010;47:41-2. 2. Longmuir S, Titler S, Johnson T, Kitzmann A. Nd:YAG laser capsulotomy under general anesthesia in the sitting position. JAAPOS 2013;17:417-19.

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3. Friedman DJ, Parnes NA, Zimmer Z, Higgins LD, Warner JP. Prevalence of cerebrovascular events during shoulder surgery and association with patient position. Orthopedics 2009;32. Available at http:// bit.ly/1b1CZjn. 4. Stager DR Jr., Wang X, Weakley DR Jr., Felius J. The effectiveness of Nd:YAG laser capsulotomy for the treatment of posterior capsule opacification in children with acrylic intraocular lenses. JAAPOS 2006;10: 159-63. 5. Cinal A, Demirok A, Yasar T, Yazicioglu A, Yener HI, Kilic¸ A. Nd:YAG laser posterior capsulotomy after pediatric and adult cataract surgery. Ann Ophthalmol 2007;39:321-6. 6. Subash M, Horgan SE. Nd:YAG laser capsulotomy in the prone position under general anesthesia. Ophthalmic Surg Lasers Imaging 2008;39:257-9. http://dx.doi.org/10.1016/j.jaapos.2014.02.001 J AAPOS 2014;18:209. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00

THE UNIQUE ASSOCIATION OF IRIS HETEROCHROMIA WITH HERMANSKY PUDLAK SYNDROME In Radke and colleagues,1 we described a child with Hermansky-Pudlak syndrome based on clinical findings and absent platelet dense bodies by electron microscopy. This child has ocular melanosis, an unusual finding in Hermansky-Pudlak syndrome. At the time of the original report, only one mutation in HPS6 was identified for this recessive condition. Since that time, sequencing was performed a second time at Casey Eye Institute Molecular Diagnostic Laboratory. Two mutations in HPS6 were identified, c.108-109ins22 and c.1713_1714insAG based on reference sequence NM_024747.5, confirming the diagnosis of HPS6. C. Gail Summers, MD Lisa A. Schimmenti, MD University of Minnesota, Minneapolis Reference 1. Radke P, Schimmenti LA, Schoonveld C, Bothun ED, Summers CG. The unique association of iris heterochromia with Hermansky Pudlak syndrome. J AAPOS 2013;17:542-4. http://dx.doi.org/10.1016/j.jaapos.2014.02.003 J AAPOS 2014;18:209. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00

HERMANSKY-PUDLAK SYNDROME (HPS5) IN A NONAGENARIAN To the Editor: In Ringeisen and colleagues,1 we described a nonagenarian with HPS5. The mutation in this patient was described as c.1081delC based on the transcript NM_007216. Using the transcript for variant 1 of the HPS5 gene, NM_181507.1, the mutation can be