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a total of 21 references, only 9 of which described cases of choroidal schwannomas, none younger than 9 years of age. References 1. Freedman SF, Elner VM, Donev I, Gunta R, Albert DM. Intraocular neurilemmoma arising from the posterior ciliary nerve in neurofibromatosis. Pathologic findings. Ophthalmology 1988;95:1559-64. 2. You JY, Finger PT, Iacob C, McCormick SA, Milman T. Intraocular schwannoma. Surv Ophthalmol 2013;58:77-85. 3. Fan JT, Campbell RJ, Robertson DM. A survey of intraocular schwannoma with a case report. Can J Ophthalmol 1995;30:37-41. 4. Lee SH, Hong JS, Choi JH, Chung WS. Choroidal schwannoma. Acta Ophthalmol Scand 2005;83:754-6. 5. Kurtkaya-Yapicier O, Scheithauer B, Woodruff JM. The pathobiologic spectrum of schwannomas. Histol Histopathol 2003;18:925-34. 6. Zbieranowski I, Bedard YC. Fine needle aspiration of schwannomas. Value of electron microscopy and immunocytochemistry in the preoperative diagnosis. Acta Cytol 1989;33:381-4. 7. Xian J, Xu X, Wang Z, et al. MR imaging findings of the uveal schwannoma. AJNR Am J Neuroradiol 2009;30:769-73. 8. Huang Y, Wei W. Choroidal schwannoma presenting as nonpigmented intraocular mass. J Clin Oncol 2012;30:e315-17.

Congenital uveal malignant melanoma Parnchat Pukrushpan, MD,a Wasee Tulvatana, MD, MSc,a and Rosana Pittayapongpat, MDb We report the clinical and pathological findings of a rare case of congenital uveal melanoma. A 7-week-old girl presented with history of a black area at the inner corner of her left eye since birth. Examination revealed an enlarged globe with an area of visible uveal pigment nasal to the cornea, an iris mass, and shallow anterior chamber in the left eye. Magnetic resonance imaging revealed an intraocular mass. Enucleation was performed when the girl was 2 months of age. Pathologic examination confirmed a malignant melanoma epithelioid cell type with extraocular extension. She was treated with chemotherapy and subtotal exenteration.

Case Report

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7-week-old baby girl presented at Queen Sirikit National Institute of Child Health, Bangkok, with a history of a black area at the inner corner

Author affiliations: aChulalongkorn University, Bangkok, Thailand; bQueen Sirikit National Institute of Child Health, Bangkok, Thailand Presented as an electronic poster at the 2nd World Congress of Pediatric Ophthalmology and Strabismus, Milan, Italy, September 8-9, 2012. Submitted August 29, 2013. Revision accepted November 12, 2013. Correspondence: Parnchat Pukrushpan, MD, Department of Ophthalmology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand (email: [email protected]). J AAPOS 2014;18:199-201. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.11.020

Journal of AAPOS

FIG 1. External view of the left eye showing lesion at superonasal side of the globe.

of her left eye since birth. Birth history, medical history, and family history were unremarkable. The patient was otherwise in good health, without any cutaneous pigmented lesion. On ophthalmological examination, the patient blinked to bright light in the right eye but not in the left eye. The left globe was large, with horizontal corneal diameter of 11.5 mm. Slit-lamp examination of the left eye revealed an area of slight bulging of the sclera, with visible uveal pigment and dilated episcleral vessels nasal to the limbus. The area extended nasally to below the semilunar fold and superiorly to the upper fornix (Figure 1). A dark brown iris mass was observed, outlining the nasal half of the iris, extending from 6 to 2 o’clock. The pupil was distorted. The anterior chamber was markedly shallow nasally. The cornea and lens were clear. The fundus reflex could not be seen. Intraocular pressure was 16 mm Hg in the right eye and 30 mm Hg in the left eye. The right eye appeared normal. Magnetic resonance imaging of the brain and orbits revealed a solid mass in the left eye at the anterior outline of the left eyeball, medial and superior to the lens, with strongly intense enhancement. The brain appeared normal. With a high suspicion of malignancies, enucleation was performed when the patient was 2 months and 12 days of age. Gross examination of the enucleated left globe demonstrated large size (Figure 2A) and thickening of the iris, ciliary body, and choroid at the medial side extending to the optic nerve head. The mass extended from 7 to 11 o’clock, examined from the anterior aspect. The basal length was 21 mm and height was 12 mm. Microscopic examination revealed an intraocular melanocytic tumor extending from the iris to the posterior choroid (Figure 2B). Tumor cells displayed heavy melanin pigmentation, large nuclei, and prominent nucleoli (Figure 3A). The tumor extended into the adjacent sclera

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FIG 2. A, Gross examination of the left eyeball showing large globe, diameter horizontally 29 mm  vertically 20 mm  anteroposteriorly 22 mm. B, Microscopic examination showing tumor extending from iris to posterior choroid (hematoxylin and eosin, original magnification  100).

FIG 3. Microscopic examination (hematoxylin and eosin, original magnification  000). A, Epithelioid-type tumor cells displaying heavy melanin pigmentation, large nuclei and prominent nucleoli (original magnification  400). B, Tumor extending into the sclera to nearly full thickness (original magnification  100).

to nearly full thickness (Figure 3B). Tumor cells were present around peripapillary blood vessels on the medial side. Anteriorly, the tumor extended beyond the trabecular meshwork to the posterior part of peripheral cornea. The optic nerve was free of tumor. The diagnosis was malignant melanoma, epithelioid cell type, with extraocular extension. Considering the extraocular extension, further removal of extraocular tissue in the left eye (subtotal exenteration) was performed 13 days following enucleation. Pathological examination detected no malignancy. Full systemic metastatic evaluation revealed no evidence of metastasis. The patient received systemic chemotherapy with vincristine and actinomycin D. The patient is being followed regularly and at last follow-up, aged 4 years 3 months, had no tumor recurrence or metastasis.

low-grade uveal malignant melanoma. There was no recurrence or metastasis 2 years after surgery. No cutaneous pigmented lesion was noted. Palazzi and colleagues7 reported a boy who presented with an enlarged right globe from a pigmented tumor since birth. Enucleation was performed in his first week of life. Pathologic examination showed malignant melanoma with extraocular extension, and he underwent chemotherapy. At age 1 year, he developed a cutaneous lesion, which was resected and confirmed to be malignant melanoma. He remained disease free at age 10 years. Published reports indicate that the prognosis for young patients with uveal melanoma is good. Singh and colleagues3 found that the survival rate is better for young patients (#20 years of age) than that for adults in the short term (5 years) but not long term (15 years). Shields and colleagues8 reported lower tumor-related metastasis and death in young patients (#20 years) compared to older adults; the better prognosis in children was independent of tumor size. Posnick and colleagues6 showed that chemotherapy is more favorable in children than in adults. It must be borne in mind, however, that the condition is extremely rare and follow-up time for the majority of cases is \5 years. Even with the presence of extraocular extension, it is notable that all of the previously reported cases, including our patient, with congenital uveal malignant melanoma responded well to treatment.4-7 Good outcome was achieved in our patient by surgical resection (enucleation followed with subtotal exenteration) combined with chemotherapy.

Discussion Uveal malignant melanoma is rare in children, accounting for only 0.6% to 1.6% of all patients with uveal malignant melanoma.1-3,8 Of pediatric patients, 90% are $10 years of age.1-2 Congenital uveal malignant melanoma is exceedingly rare: only 4 cases have been reported since 1966.4-7 Greer4 reported a 5-day-old boy with an enlarged left eye since birth. Pathologic examination of the enucleated eye revealed malignant melanoma of the mixed-cell type. There was no recurrence at his 2-year follow-up. Broadway and colleagues5 reported a girl with a large left orbital tumor since birth. Pathology revealed malignant melanoma of the epithelioid type, with extraocular extension. She also had multiple pigmented cutaneous nevi and hepatomegaly that was confirmed to be hepatic metastasis. She underwent enucleation at age 2.5 months, with postoperative chemotherapy. The patient was alive and well at 2 years 10 months of age. Posnick and colleagues6 reported a girl born with a large left facial mass involving the orbit, forehead, and cheek. She was treated with chemotherapy and radiotherapy prior to total surgical resection. Pathological findings revealed

References 1. Barr CC, McLean IW, Zimmerman LE. Uveal melanoma in children and adolescents. Arch Ophthalmol 1981;99:2133-6. 2. Shields CL, Shields JA, Milite J, et al. Uveal melanoma in teenagers and children. Ophthalmology 1997;98:1662-6. 3. Singh AD, Shields CL, Shields JA, et al. Uveal melanoma in young patients. Arch Ophthalmol 2000;118:918-23. 4. Greer CH. Congenital melanoma of the anterior uvea. Arch Ophthalmol 1966;76:77-8. 5. Broadway D, Lang S, Harper J, et al. Congenital malignant melanoma of the eye. Cancer 1991;67:2642-52.

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6. Posnick JC, Chen P, Zuker R, Greenberg ML, Becker LE, Phillips J. Extensive malignant melanoma of the uvea in childhood: resection and immediate reconstruction with microsurgical and craniofacial techniques. Ann Plast Surg 1993;31:265-70. 7. Palazzi MA, Ober MD, Abreu HF, et al. Congenital uveal malignant melanoma: a case report. Can J Ophthalmol 2005;40:611-15. 8. Shields CL, Kaliki S, Furuta M, et al. Clinical spectrum and prognosis of uveal melanoma based on age at presentation in 8,033 cases. Retina 2012;32:1363-72.

Combined hamartoma of the retina and retinal pigment epithelium in branchio-otic syndrome Priyanka Kadaba, BS, Sruthi Arepalli, BA, Jerry A. Shields, MD, and Carol L. Shields, MD A 15-month-old boy with established branchio-otic syndrome was evaluated for decreased red reflex in the left eye. Fundus examination of left eye revealed a gray epiretinal membrane with retinal traction and ill-defined macular thickening, found on ultrasonography as a dense flat region 1.7 mm in thickness. Enhanced depth imaging optical coherence tomography revealed an epiretinal membrane with macular thickening, retinal folding, and fullthickness retinal disorganization, consistent with combined hamartoma of the retina and retinal pigment epithelium. Over 5 years of follow-up, the branchio-otic syndrome was unchanged and the combined hamartoma remained stable.

C

ombined hamartoma of the retina and retinal pigment epithelium (RPE) is an uncommon, benign congenital fundus lesion.1 Characteristically it presents as a gray or mossy-green retinal thickening, often with vascular tortuosity and retinal dragging, RPE migration, fibroglial components, and overlying vitreoretinal traction.1-3 Schachat and colleagues3 noted the following clinical features in patients with combined hamartoma of the retina and RPE: vascular tortuosity (93%), pigment (87%), elevation (80%), and epiretinal membrane formation (78%). In patients with combined hamartoma, Shields and

Author affiliations: Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania Support provided by the Retina Research Foundation of the Retina Society (CLS), Lift for a Cure, Morrisdale, PA (CLS) and the Eye Tumor Research Foundation, Philadelphia, PA (CLS, JAS). The funders had no role in the design and conduct of the study, in the collection, analysis and interpretation of the data, and in the preparation, review or approval of the manuscript. Submitted August 24, 2013. Revision accepted November 20, 2013. Correspondence: Carol L. Shields, MD, Ocular Oncology Service, Wills Eye Hospital, 840 Walnut Street, Suite 1440, Philadelphia, Pennsylvania 19107 (email: carol.shields@ shieldsoncology.com). J AAPOS 2014;18:201-203. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.11.022

Journal of AAPOS

FIG 1. Clinical findings of branchio-otic syndrome. A, External photography documents the presence of a hearing aid and scars of previously repaired brachiocephalic branchial cysts. B, Close-up showing scar.

colleagues4 found that macular tumors had a substantially worse mean visual outcome than extramacular tumors at 4 years’ follow-up (20/800 vs 20/125). Branchio-otic syndrome (BOS; OMIM 602588) is an autosomal dominant disorder phenotypically associated with hearing loss and branchial fistulae.5 Related findings include abnormalities of the accessory auricles, ureters, lacrimal apparatus, renal ducts, and otitis media.5 It can manifest with additional features of renal deformities as branchio-oto-renal syndrome (BOR; OMIM 113650).6 The prognosis for BOS is favorable with surgical removal of branchial deformities and hearing aids.6 Combined hamartoma of the retina and RPE has been reported in single cases of branchio-oculo-facial syndrome (BOF; OMIM 113620) but not, to our knowledge, in BOS.4 However, BOS has been associated with anterior segment ocular anomalies.7 We present a case of BOS associated with presumed combined hamartoma of the retina and RPE.

Case Report A 15-month-old white boy was referred to the Ocular Oncology Service, Wills Eye Hospital, for evaluation of poor red pupillary reflex. Medical history revealed recurrent ear infections bilaterally. Surgical history included repair of right and left brachiocephalic branchial cysts in the lateral neck region. The branchial fistulas posed a respiratory risk and were surgically removal when the boy was 6 months of age (Figure 1). There was no family history of neurofibromatosis (NF) type 1 or 2. On ophthalmological examination, visual acuity was fix and follow bilaterally. The eye examination was normal except for the left retina examination which had an abnormal foveal reflex with a gray, slightly elevated fibroglial preretinal lesion in the macular region, measuring 3.5 mm in basal diameter (Figure 2A). There was retinal traction toward the foveal region, confirmed on fluorescein

Congenital uveal malignant melanoma.

We report the clinical and pathological findings of a rare case of congenital uveal melanoma. A 7-week-old girl presented with history of a black area...
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