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 Table of Contents    
Year : 2014  |  Volume : 7  |  Issue : 3  |  Page : 138-140  

Resistant retinoblastoma in a 23-year-old patient

1 Department of Surgery, King Hussein Cancer Center, Amman, Jordan
2 Department of Pathology, King Hussein Cancer Center, Amman, Jordan
3 Department of Radiotherapy, King Hussein Cancer Center, Amman, Jordan
4 Department of Pediatrics, King Hussein Cancer Center, Amman, Jordan

Date of Web Publication11-Oct-2014

Correspondence Address:
Mustafa Mehyar
Department of Surgery, King Hussein Cancer Center, Queen Rania Al Abdullah Street, P.O Box 1269, Amman 11941
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0974-620X.142597

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Retinoblastoma is a very rare disease in adults. We are reporting a rare case of resistant retinoblastoma in 23-year-old patient. A 23-year-old male patient presented with loss of vision in the right eye over one-month duration. Examination showed an epiretinal membrane in the right macula in addition to a white mass located inferiorly and associated with vitreous seeds. The diagnosis of retinoblastoma was established. In order to save the patient's life and to preserve the eye and vision, he was treated with chemotherapy, focal therapy, and radioactive Iodine 125 plaque therapy. The tumor was resistant for treatment and recurred two years after plaque therapy, and enucleation showed well-differentiated retinoblastoma. Retinoblastoma may present in adults, and it was resistant to both chemotherapy and plaque radiation therapy in our case.

Keywords: Adult retinoblastoma, epiretinal membrane, retinocytoma, vitrectomy

How to cite this article:
Yousef YA, Istetieh J, Nawaiseh I, Al-Hussaini M, Alrawashdeh K, Jaradat I, Sultan I, Mehyar M. Resistant retinoblastoma in a 23-year-old patient . Oman J Ophthalmol 2014;7:138-40

How to cite this URL:
Yousef YA, Istetieh J, Nawaiseh I, Al-Hussaini M, Alrawashdeh K, Jaradat I, Sultan I, Mehyar M. Resistant retinoblastoma in a 23-year-old patient . Oman J Ophthalmol [serial online] 2014 [cited 2023 Mar 27];7:138-40. Available from: https://www.ojoonline.org/text.asp?2014/7/3/138/142597

   Introduction Top

Retinoblastoma (RB) is the most common intraocular malignancy in childhood and infancy, and 90% of cases are diagnosed before the age of 5 years. [1],[2],[3] Since RB is rare in adults, it is not usual to be considered in the differential diagnosis of an intraocular mass in adults. [4] Search of published peer-reviewed literature showed 26 reported cases of retinoblastoma presenting in adult age, [4],[5],[6],[7],[8] all of which were managed by enucleation [Table 1]. Herein we present a case of intraocular retinoblastoma in adult patient that was resistant to both chemotherapy and plaque radiation therapy and ended with enucleation.
Table 1: Reported cases of retinoblastoma in adults

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   Case Report Top

A 23-year-old Jordanian male patient, medically free, presented with gradual painless visual loss in the right eye associated with floaters for one month prior to presentation. His best corrected visual acuity (BCVA) was 20/400 in the right eye and 20/20 in the left eye. Slit lamp examination of the anterior segment was within normal limit and intraocular pressure was 16 mmHg in the right eye and 15 mmHg in the left eye. Fundus examination showed right inferotemporal white opaque retinal tumor associated with large feeding vessel, vitreous seeds within 3.0 mm from tumor margin, and an epiretinal membrane (ERM) at the temporal part of macula [Figure 1]. Left fundus exam was normal. B-scan ultrasonography showed solitary solid intraocular mass with central calcification (thickness = 3.5 mm) with no optic nerve invasion. Similarly, computed tomography (CT) revealed an inferior solid mass (3.5 × 9.5 × 3.5 mm) with intratumoral calcifications, located 6.0 mm from the optic disc with no signs of extra ocular extension [Figure 1]. According to the clinical features, diagnosis of unilateral intra-ocular retinoblastoma; international intraocular retinoblastoma (IIRC) group C was established, and the patient was managed accordingly by six cycles (four weeks apart) of carboplatin 500 mg/m 2 on day one, vincristine 1.50 mg/m 2 on day one, and etopside 150 mg/m 2 on days one and two. Consolidating laser therapy (810 laser therapy) was applied after the second cycle. Post chemotherapy, the patient was followed with regular exam every four weeks and was treated with 810 laser therapy for the residual tumor as needed. Seven months post chemotherapy, plaque radiation therapy (Iodine 125 ) was applied for tumor progression associated with adjacent vitreous seeds [Figure 2]. On follow up, the tumor was inactive but was associated with persistent retinal detachment and ERM. The tumor did not show any signs of growth over the 12-month period post plaque therapy; therefore, retinal detachment (RD) was fixed by pars plana vitrectomy (PPV). Intraoperatively, RD was persistent tractional RD with epiretinal membrane dragging over calcified tumor. RD was repaired by three port PPV and membrane peeling (no drainage) then filled with silicon oil, which was removed 6 months later. Cytopathologic examination of the fluid aspirated during the vitrectomy was negative for malignant cells. Four months post silicon oil removal, the retina was flat but the patient required cataract surgery. Twelve months after PPV, BCVA was counting finger closely with very hazy fundus view. B-scan showed new dome-shaped tumor suggestive of recurrence [Figure 2]; therefore enucleation was done. Histopathology of the enucleated eye showed differentiated retinoblastoma, displaying Homer-Wright rosettes and Flexner-Wintersteiner rosettes with no choroidal or optic nerve invasion with no signs of previous retinoma [Figure 2].
Figure 1: Fundus photos of the right eye with retinoblastoma. Poor vision was secondary to the epiretinal membrane (ERM) in the macula (a), due to traction caused by white opaque retinal tumor inferior to the macula (b). The tumor was associated with seeds in the vitreous cavity (c), and had calcifications shown as hyperdensity on computed tomography (CT scan) (d)

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Figure 2: Tumor features after treatment. The tumor looks fibrotic with no activity 12 months after radioactive iodine125 plaque therapy (a), as well as 9 months after pars plana vitrectomy (PPV) (b). More than 12 months after PPV, B-scan showed new tumor growth (c). Histopathology study after enucleation showed well-differentiated retinoblastoma, displaying Homer-Wright rosettes and Flexner-Wintersteiner rosettes

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   Discussion Top

The differential diagnosis of amelanotic intraocular tumor in adults includes amelanotic melanoma, metastasis, hemangioma, lymphoma, leukemia, endophthalmitis, panophthalmitis, and inflammatory diseases of retina as well as retinoma and retinoblastoma. [9] Retinoblastoma is extremely rare in adults, and more than 90% of cases are diagnosed before the age of 5 years, [2] making diagnosis of retinoblastoma in adults challenging.

Large opaque white tumors with vitreous seeds can be easily identified as retinoblastoma mainly when associated with calcifications detected by ultrasound and/or CT scan and fluorescein angiography finding of diffuse tumor hyperfluorescence and dilated retinal feeder vessels, [10] but small solitary lesions may be difficult to diagnose clinically. Calcification, which is a characteristic of retinoblastoma in children, is less common in adult-onset retinoblastoma. [11]

Retinoma is a benign retinal tumor that is characterized by translucent, grey elevated mass and is frequently associated with cottage cheese calcification and retinal pigment epithelium hyperplasia. [12],[13],[14] It carries RB1 gene mutation causing genome instability making it premalignant lesion [12],[15] that requires close observation due to the risk of malignant transformation to retinoblastoma, and genetic testing and counseling is needed if available. Retinoma was observed in 1.8-15.6% of patients with retinoblastoma. [12],[13],[14],[15],[16]

Our patient had ophthalmic features that are more consistent with RB than retinoma and include opaque white color of the tumor, absence of both retinal pigment epithelium hyperplasia and chorioretinal atrophy, diffuse hyperfluorescence in fluorescein angiography, and responsiveness to radiation therapy because unlike RB, retinoma does not change with radiation therapy. [17] There is no documented normal fundus exam for our patient. Therefore, it was a possible theory that our patient had pre-existing retinoma that transformed to retinoblastoma due to accumulation of oncogenic mutations, [18] but the pathology did not show any signs suggestive of previous retinoma in our patient. Of interest, 10 out of the 26 previously reported cases of retinoblastoma in adults were associated with retinoma [Table 1].

Even the tumor in our case was initially responsive to chemotherapy with focal therapy; residual tumor could not be eliminated without radiation therapy (Iodine 125 Radiaoactive Plaque). The tumor was very resistant even to radiation therapy and recurred after more than one year of stability, and therefore, enucleation could not be avoided.

This report highlights the fact that the presence of an amelanotic mass lesion in the fundus of an adult should raise the suspicion of retinoblastoma. Retinoblastoma in adults may be more resistant to therapy than retinoblastoma in children, and enucleation is recommended mainly if the other eye had good vision.

   References Top

Nork TM, Schwartz TL, Doshi HM, Millecchia LL. Retinoblastoma. Cell of origin. Arch Ophthalmol 1995;113:791-802.  Back to cited text no. 1
Pendergrass TW, Davis S. Incidence of retinoblastoma in the United States. Arch Ophthalmol 1980;98:1204-10.  Back to cited text no. 2
Crosby MB, Hubbard GB, Gallie BL, Grossniklaus HE. Anterior diffuse retinoblastoma: Mutational analysis and immunofluorescence staining. Arch Pathol Lab Med 2009;133:1215-8.  Back to cited text no. 3
Mietz H, Hutton WL, Font RL. Unilateral retinoblastoma in an adult. Report of a case and review of the literature. Ophthalmology 1997;104:43-7.  Back to cited text no. 4
Nandedkar VS, Joshi AR, Kabra N, Deshpande NN. Presentation of retinoblastomain pregnancy. Indian J Ophthalmol 2010;58:229-32.  Back to cited text no. 5
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Singh SK, Das D, Bhattacharjee H, Biswas J, Kuri G, Bhattacharjee K, et al. A rare case of adult onset retinoblastoma. Oman J Ophthalmol 2011;4:25-7.  Back to cited text no. 6
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Biswas J, Mani B, Shanmugam MP, Patwardhan D, Kumar KS, Badrinath SS. Retinoblastoma in adults. Report of three cases and review of the literature. Surv Ophthalmol 2000;44:409-14.  Back to cited text no. 7
Shrestha A, Adhikari RC, Saiju R. Retinoblastoma in a 37 years old man in Nepal: A case report. Kathmandu Univ Med J (KUMJ) 2010;8:247-50.  Back to cited text no. 8
Stafford WR, Yanoff M, Parnell BL. Retinoblastomas initially misdiagnosed as primary ocular inflammations. Arch Ophthalmol 1969;82:771-3.  Back to cited text no. 9
Shields JA, Sanborn GE, Augsburger JJ, Orlock D, Donoso LA. Fluorescein angiography of retinoblastoma. Trans Am Ophthalmol Soc 1982;80:98-112.  Back to cited text no. 10
Odashiro AN, Pereira PR, de Souza Filho JP, Cruess SR, Burnier MN Jr. Retinoblastoma in an adult: Case report and literature review. Can J Ophthalmol 2005;40:188-91.  Back to cited text no. 11
Gallie BL, Ellsworth RM, Abramson DH, Phillips RA. Retinoma: Spontaneous regression of retinoblastoma or benign manifestation of the mutation? Br J Cancer 1982;45:513-21.  Back to cited text no. 12
Singh AD, Santos CM, Shields CL, Shields JA, Eagle RC Jr. Observations on 17 patients with retinocytoma. Arch Ophthalmol 2000;118:199-205.  Back to cited text no. 13
Abouzeid H, Balmer A, Moulin AP, Mataftsi A, Zografos L, Munier FL. Phenotypic variability of retinocytomas: Preregression and postregression growth patterns. Br J Ophthalmol 2012;96:884-9.  Back to cited text no. 14
Dimaras H, Khetan V, Halliday W, Orlic M, Prigoda NL, Piovesan B, et al. Loss of RB1 induces non-proliferative retinoma: Increasing genomic instability correlates with progression to retinoblastoma. Hum Mol Genet 2008;17:1363-72.  Back to cited text no. 15
Balmer A, Munier F, Gailloud C. Retinoma. Case studies. Ophthalmic PaediatrGenet 1991;12:131-7.  Back to cited text no. 16
Ramasubramanian A, Shields CL. Retinoblastoma. 1 st ed. New Delhi. JP Medical. 2012; 215. Eagle RC Jr. Eye pathology: An Atlas and Text. 2 nd ed. Philadelphia: Lippincott Williams and Wilkins; 2011. p . 213.  Back to cited text no. 17
Sampieri K, Hadjistilianou T, Mari F, Speciale C, Mencarelli MA, Cetta F, et al. Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. J Hum Genet 2006;51:209-16.  Back to cited text no. 18


  [Figure 1], [Figure 2]

  [Table 1]

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