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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
          OOP
          OOP
          10.1159/issn.2296-4657
          Ocular Oncology and Pathology
          S. Karger AG
          2296-4681
          2296-4657
          2018
          September 2018
          14 February 2018
          : 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@yahoo.co.in
          Article
          486341 PMC6167686 Ocul Oncol Pathol 2018;4:309–312
          10.1159/000486341
          PMC6167686
          30320103
          © 2018 S. Karger AG, Basel

          Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

          Page count
          Figures: 3, Pages: 4
          Categories
          Novel Insights from Clinical Practice

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