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Metastatic unilateral retinoblastoma to the contralateral orbital optic nerve presenting with optic disc edema
Affiliations- Department of Diagnostic Radiology, King Hussein Cancer Centre (KHCC), Amman, Jordan
- Department of Pathology and Laboratory Medicine, King Hussein Cancer Centre (KHCC), Amman, Jordan
- Department of Surgery (Ophthalmology), King Hussein Cancer Centre, Amman, Jordan
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Abstract
Retinoblastoma (Rb) is a malignant eye tumor that poses a significant risk of mortality once metastasized. We present the case of a 30-month-old girl with left-sided Rb who underwent primary enucleation with pathology-confirmed diagnosis without high-risk pathologic features. Therefore she did not receive adjuvant chemotherapy. Six months later, the patient developed skull bone and bone marrow metastasis, which were treated with systemic chemotherapy, excision of bone metastasis, focal radiation treatment to the site of osseous metastasis, and bone marrow transplantation.
Follow-up for two years was unremarkable until she presented with vision loss in the remaining contralateral eye. Ophthalmic examination revealed severe optic disc edema without intraocular masses, initially thought to be optic neuritis. However, the patient did not respond to steroids, and the initial cerebrospinal fluid (CSF) analysis was negative. This was repeated based on high clinical suspicion of metastasis, revealing only a few malignant cells.
The presentation and appearance of the optic nerve were considered metastasis-related and treated with radiation therapy, which resulted in dramatic clinical and radiological improvement. Unfortunately, a few weeks later, the patient developed lower limb weakness, and imaging showed diffuse leptomeningeal metastasis, confirmed by CSF findings.
This case represents the first documented isolated contralateral optic nerve metastasis in Rb.
Abstract
Retinoblastoma (Rb) is a malignant eye tumor that poses a significant risk of mortality once metastasized. We present the case of a 30-month-old girl with left-sided Rb who underwent primary enucleation with pathology-confirmed diagnosis without high-risk pathologic features. Therefore she did not receive adjuvant chemotherapy. Six months later, the patient developed skull bone and bone marrow metastasis, which were treated with systemic chemotherapy, excision of bone metastasis, focal radiation treatment to the site of osseous metastasis, and bone marrow transplantation.
Follow-up for two years was unremarkable until she presented with vision loss in the remaining contralateral eye. Ophthalmic examination revealed severe optic disc edema without intraocular masses, initially thought to be optic neuritis. However, the patient did not respond to steroids, and the initial cerebrospinal fluid (CSF) analysis was negative. This was repeated based on high clinical suspicion of metastasis, revealing only a few malignant cells.
The presentation and appearance of the optic nerve were considered metastasis-related and treated with radiation therapy, which resulted in dramatic clinical and radiological improvement. Unfortunately, a few weeks later, the patient developed lower limb weakness, and imaging showed diffuse leptomeningeal metastasis, confirmed by CSF findings.
This case represents the first documented isolated contralateral optic nerve metastasis in Rb.
Keywords
metastasis; optic nerve; optic neuritis; retinoblastoma
About this articleTitle
Metastatic unilateral retinoblastoma to the contralateral orbital optic nerve presenting with optic disc edema
Journal
Issue
Vol 8 (2023): Continuous Publishing
Article type
Case report
Pages
62-67
Published online
2023-05-02
Page views
1837
Article views/downloads
392
DOI
Bibliographic record
Ophthalmol J 2023;8:62-67.
Keywords
metastasis
optic nerve
optic neuritis
retinoblastoma
Authors
Dima Abu Laban
Maysa Al-Hussaini
Reem AlJabari
Mona Mohammad
Rasha Deebajah
Yacoub A. Yousef
References (33)- Dimaras H, Corson TW, Cobrinik D, et al. Retinoblastoma. Nat Rev Dis Primers. 2015; 1: 15021.
- Yousef YA, Mohammad M, Al-Nawaiseh I, et al. Retinoblastoma and uveal melanoma in Jordan: incidence, demographics, and survival (2011-2020). Ophthalmic Genet. 2023; 44(2): 119–126.
- Dimaras H, Kimani K, Dimba EAO, et al. Retinoblastoma. Lancet. 2012; 379(9824): 1436–1446.
- Friedman DL, Himelstein B, Shields CL, et al. Chemoreduction and local ophthalmic therapy for intraocular retinoblastoma. J Clin Oncol. 2000; 18(1): 12–17.
- Yousef YA, Al-Nawaiseh I, Mehyar M, et al. How Telemedicine and Centralized Care Changed the Natural History of Retinoblastoma in a Developing Country: Analysis of 478 Patients. Ophthalmology. 2021; 128(1): 130–137.
- Ancona-Lezama D, Dalvin LA, Shields CL. Modern treatment of retinoblastoma: A 2020 review. Indian J Ophthalmol. 2020; 68(11): 2356–2365.
- Shields CL, Honavar SG, Meadows AT, et al. Chemoreduction plus focal therapy for retinoblastoma: factors predictive of need for treatment with external beam radiotherapy or enucleation. Am J Ophthalmol. 2002; 133(5): 657–664.
- Yousef YA, Noureldin AM, Sultan I, et al. Intravitreal Melphalan Chemotherapy for Vitreous Seeds in Retinoblastoma. J Ophthalmol. 2020; 2020: 8628525.
- Hamel P, Heon E, Gallie BL, et al. Focal therapy in the management of retinoblastoma: when to start and when to stop. J AAPOS. 2000; 4(6): 334–337.
- Abramson DH, Marr BP, Francis JH. Intra-arterial Chemotherapy for Retinoblastoma. JAMA Ophthalmol. 2016; 134(10): 1202.
- Yu CL, Tucker MA, Abramson DH, et al. Cause-specific mortality in long-term survivors of retinoblastoma. J Natl Cancer Inst. 2009; 101(8): 581–591.
- Wong JR, Morton LM, Tucker MA, et al. Risk of subsequent malignant neoplasms in long-term hereditary retinoblastoma survivors after chemotherapy and radiotherapy. J Clin Oncol. 2014; 32(29): 3284–3290.
- Kleinerman RA, Tucker B, Sigel BS, et al. Patterns of cause-specific mortality among 2053 survivors of retinoblastoma, 1914–2016, J National Cancer Inst. 2019; 111(9): 961–969.
- Abramson DH, Frank CM. Second nonocular tumors in survivors of bilateral retinoblastoma: a possible age effect on radiation-related risk. Ophthalmology. 1998; 105(4): 573–9; discussion 579.
- Moll AC, Imhof SM, Schouten-Van Meeteren AY, et al. Second primary tumors in hereditary retinoblastoma: a register-based study, 1945-1997: is there an age effect on radiation-related risk? Ophthalmology. 2001; 108(6): 1109–1114.
- Wang P, Li YJ, Zhang SB, et al. Metastatic retinoblastoma of the parotid and submandibular glands: a rare case report. BMC Ophthalmol. 2017; 17(1): 229.
- Purkayastha A, Sharma N, Pathak A, et al. An extremely rare case of metastatic retinoblastoma of parotids presenting as a massive swelling in a child. Transl Pediatr. 2016; 5(2): 90–94.
- Sheth J, Soman M, Iqbal S, et al. A rare case of bilateral retinoblastoma metastasizing into the forearm. Ind J Ophthalmol. 2022; 2(1): 170.
- Fabian ID, Reddy A, Sagoo MS. Classification and staging of retinoblastoma. Community Eye Health. 2018; 31(101): 11–13.
- Jubran RF, Erdreich-Epstein A, Butturini A, et al. Approaches to treatment for extraocular retinoblastoma: Children's Hospital Los Angeles experience. J Pediatr Hematol Oncol. 2004; 26(1): 31–34.
- Leal-Leal CA, Rivera-Luna R, Flores-Rojo M, et al. Survival in extra-orbital metastatic retinoblastoma:treatment results. Clin Transl Oncol. 2006; 8(1): 39–44.
- Mohan K, Gupta A, Saini JS, et al. Retinoblastoma metastatic to the contralateral orbit. Br J Ophthalmol. 1990; 74(5): 311–312.
- Goldberg RA, Rootman J, Cline RA. Tumors metastatic to the orbit: a changing picture. Surv Ophthalmol. 1990; 35(1): 1–24.
- Kim UR, Shah AD, Arora V, et al. Isolated optic nerve infiltration in systemic lymphoma--a case report and review of literature. Ophthalmic Plast Reconstr Surg. 2010; 26(4): 291–293.
- Garrity JA, Herman DC, Dinapoli RP, et al. Isolated metastasis to optic nerve from medulloblastoma. Ophthalmology. 1989; 96(2): 207–210.
- Hertle RW, Robb RM. Pinealoblastoma metastatic to the optic nerve. J Clin Neuroophthalmol. 1990; 10(2): 95–99.
- Joseph AK, Guerin JB, Eckel LJ, et al. Imaging Findings of Pediatric Orbital Masses and Tumor Mimics. Radiographics. 2022; 42(3): 880–897.
- Parker RT, Ovens CA, Fraser CL, et al. Optic nerve sheath meningiomas: prevalence, impact, and management strategies. Eye Brain. 2018; 10: 85–99.
- Pérez-Cambrodí RJ, Gómez-Hurtado Cubillana A, Merino-Suárez ML, et al. Optic neuritis in pediatric population: a review in current tendencies of diagnosis and management. J Optom. 2014; 7(3): 125–130.
- Bonhomme GR, Mitchell EB. Treatment of pediatric optic neuritis. Curr Treat Options Neurol. 2012; 14(1): 93–102.
- Hirst LW, Miller NR, Kumar AJ, et al. Medulloblastoma causing a corticosteroid-responsive optic neuropathy. Am J Ophthalmol. 1980; 89(3): 437–442.
- Dooley MC, Foroozan R. Optic neuritis. J Ophthalmic Vis Re. 2010; 5(3): 182–187.
- Hu H, Zhang W, Wang Y, et al. Characterization, treatment and prognosis of retinoblastoma with central nervous system metastasis. BMC Ophthalmol. 2018; 18(1): 107.