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Chapter-06 Differential Diagnosis of Retinoblastoma

BOOK TITLE: Retinoblastoma

Author
1. Shields Carol L
2. Kaliki Swathi
ISBN
9789350257845
DOI
10.5005/jp/books/11629_6
Edition
1/e
Publishing Year
2012
Pages
15
Author Affiliations
1. Wills Eye Institute, Philadelphia, Pennsylvania, USA, Wills Eye Hospital, Philadelphia, USA, Wills Eye Institute, Thomas Jefferson University, Philadelphia, PA, U.S.A
2. Wills Eye Institute, Thomas Jefferson University, 840 Walnut Street, Philadelphia, Pennsylvania, USA
Chapter keywords

Abstract

Retinoblastoma can manifest with a multitude of clinical features, some that are classic or nearly pathognomonic and others that are less common. In most cases, the diagnosis can be secured by recognition of clinical features and confirmation with noninvasive diagnostic imaging, without the need for biopsy. Pseudoretinoblastomas are benign conditions that mimic retinoblastoma and can lead to erroneous diagnosis. The general ophthalmologist and other non-ocular oncologists still have difficulty in establishing the diagnosis of retinoblastoma and pseudoretinoblastoma. In studies on the frequency of correct diagnosis of this tumor upon referral to ocular oncology, it was found that the correct diagnosis of retinoblastoma was made in 47-58% of the time and erroneous pseudoretinoblastoma represented 42-53% of cases. A thorough fundus evaluation should be done in every child presenting with leukocoria, strabismus, and/or amblyopia to rule out retinoblastoma. Meticulous examination with indirect ophthalmoscopy coupled with ultrasonography, fluorescein angiography, CT and MRI help in accurate diagnosis of retinoblastoma. Accurate diagnosis of true retinoblastoma can prevent unnecessary enucleation.

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