TY - JOUR
T1 - Diagnosis of bilateral retinocytoma in an adolescent patient using multimodal imaging and genetic testing
AU - Paez-Escamilla, Manuel
AU - Walter, Scott D.
AU - Ramaiya, Kamalesh J.
AU - Harbour, J. William
N1 - Funding Information:
Originally submitted March 5, 2018. Revision received July 25, 2018. Accepted for publication September 9, 2018. This study was supported by a NIH Center Core Grant (P30EY014801) and a Research to Prevent Blindness Unrestricted Grant. The authors report no relevant financial disclosures. Address correspondence to J. William Harbour, MD, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th St., Miami, FL 33136; email: harbour@miami.edu. doi: 10.3928/23258160-20181002-11
Publisher Copyright:
© 2018 Slack Incorporated. All rights reserved.
PY - 2018/10
Y1 - 2018/10
N2 - A 12-year-old male presented for evaluation of asymptomatic bilateral retinal tumors. Both eyes contained whitish-gray retinal tumors with intralesional calcifications. Enhanced depth optical coherence tomography and high-resolution (20 MHz) ultrasonography narrowed the differentiation diagnosis to astrocytic hamartoma versus retinocytoma. Genetic testing of a saliva sample was negative for tuberous sclerosis complex but positive for a novel mutation in the retinoblastoma gene (RB1). Taken together, these findings were consistent with a diagnosis of bilateral retinocytoma in a patient with germline RB1 mutation. This case demonstrates the importance of combining clinical imaging and genetic testing in the evaluation of bilateral intraocular tumors.
AB - A 12-year-old male presented for evaluation of asymptomatic bilateral retinal tumors. Both eyes contained whitish-gray retinal tumors with intralesional calcifications. Enhanced depth optical coherence tomography and high-resolution (20 MHz) ultrasonography narrowed the differentiation diagnosis to astrocytic hamartoma versus retinocytoma. Genetic testing of a saliva sample was negative for tuberous sclerosis complex but positive for a novel mutation in the retinoblastoma gene (RB1). Taken together, these findings were consistent with a diagnosis of bilateral retinocytoma in a patient with germline RB1 mutation. This case demonstrates the importance of combining clinical imaging and genetic testing in the evaluation of bilateral intraocular tumors.
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U2 - 10.3928/23258160-20181002-11
DO - 10.3928/23258160-20181002-11
M3 - Article
C2 - 30395669
AN - SCOPUS:85055661912
SN - 2325-8160
VL - 49
SP - 812
EP - 814
JO - Ophthalmic Surgery Lasers and Imaging Retina
JF - Ophthalmic Surgery Lasers and Imaging Retina
IS - 10
ER -