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      Atypical Presentation of Bilateral Retinoblastoma with Floaters and Sub-Internal Limiting Membrane Seeds in an 11-Year-Old Asian Indian Male

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          Abstract

          Purpose

          To report bilateral retinoblastoma in an 11-year-old child presenting with floaters and sub-internal limiting membrane (sub-ILM) seeds.

          Method

          An 11-year-old child presented with floaters of 4 months' duration. Examination revealed circumscribed, whitish, subhyaloid, floccular nodules in the juxtapapillary region of both eyes. No solid tumor was seen. Swept-source optical coherence tomography revealed moderately reflective echoes in the sub-ILM space. Vitreous aspiration of sub-ILM deposits and cytopathological examination revealed retinoblastoma. Intravitreal melphalan (20 μg/0.02 mL) was followed by 6 monthly cycles of high-dose systemic chemotherapy (vincristine, etoposide, carboplatin). Metastatic workup and genetic testing for RB1 mutational screening were negative. Ocular lesions resolved after 13 weeks of treatment. Brain metastases developed after 20 weeks and were treated with radiation. Bilateral vitreous seeds recurred at 44 weeks and were treated with intravitreal chemotherapy (melphalan 20 μg/0.02 mL and topotecan 20 μg/0.02 mL). There was no extra-ocular spread from sclerotomy sites.

          Results

          Retinoblastoma and brain metastases resolved with multimodal treatment without recurrence at 59 weeks of follow-up.

          Conclusion

          Atypical manifestation of retinoblastoma can be seen in older children presenting with “floaters” and bilateral deposits of sub-ILM seeds, without solid tumor.

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          Author and article information

          Journal
          Ocul Oncol Pathol
          Ocul Oncol Pathol
          OOP
          Ocular Oncology and Pathology
          S. Karger AG (Allschwilerstrasse 10, P.O. Box · Postfach · Case postale, CH-4009, Basel, Switzerland · Schweiz · Suisse, Phone: +41 61 306 11 11, Fax: +41 61 306 12 34, karger@karger.ch )
          2296-4681
          2296-4657
          September 2018
          14 February 2018
          1 September 2019
          : 4
          : 5
          : 309-312
          Affiliations
          aShree Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, India
          bLarson and Toubro Department of Ocular Pathology, Vision Research Foundation, Sankara Nethralaya, Chennai, India
          Author notes
          *Dr. Pukhraj Rishi, MD, FRCS, Medical Research Foundation, Sankara Nethralaya, No. 18, College Road, Nungambakkam, Chennai, Tamil Nadu 600016 (India), E-Mail docrishi@ 123456yahoo.co.in

          Meeting presentation: International Society of Ocular Oncology meeting, Sydney, March 24–28, 2017.

          Article
          PMC6167686 PMC6167686 6167686 oop-0004-0309
          10.1159/000486341
          6167686
          30320103
          Copyright © 2018 by S. Karger AG, Basel
          Page count
          Figures: 3, References: 7, Pages: 4
          Categories
          Novel Insights from Clinical Practice

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