From the Medical and Vision Research Foundations, Chennai, India.
Supported by the Vision Research Foundation, Chennai, India.
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to Jyotirmay Biswas, MS, Director of Uveitis and HOD – Ocular Pathology, Medical and Vision Research Foundations, Sankara Nethralaya, 18, College Road, Chennai 600 006,Tamil-Nadu, India.
Atypical retinoblastoma can have varied presentations.1–3 There are few articles in the literature of this condition.1–7 Unsuspected retinoblastoma is a rare occurrence. The discovery of unsuspected retinoblastoma in an eye with a previous history of trauma emphasizes the necessity for histopathologic examination of all eviscerated or enucleated eyes, particularly in children of all ages.3 We report a rare case of unsuspected retinoblastoma in a young child who had trauma and subsequent pars plana vitrectomy following vitreous hemorrhage in that eye. The patient developed a painful blind eye with hyphema and the eye was eviscerated. Histopathologic study revealed retinoblastoma.
A 9-year-old girl presented with complaints of redness and painful proptosis in the left eye with severe headache. Ocular history revealed a blunt injury with a fist to the left eye that occurred accidentally while playing. Subsequently, she had pars plana vitrectomy for vitreous hemorrhage. There was no history of weight loss, loss of appetite, chronic cough, tremor, seizures, or swelling elsewhere. The family history was not significant.
On ocular examination, visual acuity in the right eye was 6/6; N.6 and she had no light perception in the left eye. Extraocular movements were full in both eyes. Proptosis in the left eye was noted with corneal scarring and tenderness of the orbital rim on palpation. There was no palpable mass or resistance to retropulsion and no pulsation or thrill or regional lymphadenopathies were noted. Intraocular pressures were normal in both eyes. Fundus examination in the right eye was unremarkable and there was no view of the left fundus.
The patient was evaluated in the oculoplasty department. Ciliary staphyloma with painful blind eye was diagnosed in the left eye with additional corneal scarring and hyphema. B-scan ultrasound revealed multiple moderate reflective dot echoes in the vitreous cavity with variable reflective membranes in the temporal and inferior quadrant. No mass lesion or calcification was noted (Fig. 1). She was scheduled for evisceration plus ball implant under general anesthesia. The laboratory studies showed complete blood count, erythrocyte sedimentation rate, blood grouping (O+ve), Rh +ve, blood coagulation profile, HIV(–ve), HBsAg(–ve), syphilis serology (non-reactive), and random blood sugar were within normal limits.
Figure 1. B-Scan Ultrasound of the Left Eye Revealed Multiple Moderate Reflective Dot Echoes in the Vitreous Cavity with Variable Reflective Membranes in the Temporal and Inferior Quadrant. There Was No Mass Lesion or Calcification Noted.
Gross examination of the eviscerated specimen showed multiple pieces of grayish-white tissue measuring 20 × 18 × 13 mm together, which were submitted to pathology. Histopathologic examination of the tissue revealed viable malignant round cells with areas of necrosis consistent with undifferentiated retinoblastoma with full-thickness choroidal and ciliary body invasion (Fig. 2). Further surgery was planned to obtain optic nerve stump and scleral and orbital tissue to confirm local metastasis. The cut end of the post-laminar optic nerve and scleral remnant showed focal basophilic and round retinoblastoma cells (Fig. 3). The case was referred to an oncologist and further treatment was planned. The patient was given 6 cycles of chemotherapy (day 1 = vincristine + etoposide + carboplatin; day 2 = etoposide; standard dose = 3 times weekly, 6 cycles) and is doing well.
Figure 2. Eviscerated Tissue Revealed Viable Malignant Round Cells with Areas of Necrosis Consistent with Undifferentiated Retinoblastoma with Full-Thickness Choroidal and Ciliary Body Invasion (hematoxylin–Eosin, Original Magnification ×100). The Inset Shows Tumor Cells in Higher Magnification with Multiple Mitotic Figures (original Magnification ×1,000).
Figure 3. Cut End of the Post-Laminar Optic Nerve and Scleral Remnant Showed Focal Basophilic and Round Retinoblastoma Cells (hematoxylin–Eosin, Original Magnification ×100).
Retinoblastoma is a malignancy of childhood with an average age of diagnosis of 12 months in bilateral cases and 24 months in unilateral cases.1–3 Shields et al.3 reported that 8% of the children in their series were older than 5 years at the time of diagnosis and 2% were older than 10 years. There was often an initial delay in diagnosis in older children because 27% of the patients were believed to have non-neoplastic conditions such as hyphema, vitreous hemorrhage, vitreous inflammation, or Coats’ disease before retinoblastoma was suspected and before referral for tumor management.4,6–8 In a series of 1,000 eyes enucleated from children younger than 15 years, 50% of the eyes were removed because of trauma and 20% because of the neoplastic process. Only 1% of all specimens contained totally unsuspected tumor.3 If a child or adolescent has unexplained vitreous hemorrhage at presentation or in due course, underlying retinoblastoma should be excluded before vitrectomy is performed.4 Consultation with an experienced retinoblastoma specialist should be advised if any suspicious case is encountered.4
The current case had blunt ocular trauma in childhood and later had pars plana vitrectomy for vitreous hemorrhage done elsewhere. We could not comment about the existence of intraocular tumor because the vitrectomy specimen was not submitted to cytology. In a study by Shields et al.,4 cytological examination of the vitrectomy specimen revealed retinoblastoma in 73% of cases. The current patient later developed ciliary staphyloma with a painful blind eye and the fundus view was obscured due to corneal scarring and hyphema. There are few reports of unsuspected retinoblastoma with hyphema in the literature.6,7 The age of diagnosis of diffuse infiltrating retinoblastoma is approximately 7 years, which is later than for typical retinoblastoma. Clinical features include ocular redness, pseudohypopyon, iris nodules, and pseudouveitis. There is no focal tumor mass but totally diffuse tumoral infiltration is present. Echographic examination does not reveal calcification as in typical retinoblastoma.9
The discovery of unsuspected retinoblastoma stresses the necessity for histopathologic examination of all enucleated and eviscerated tissue. Evisceration is recommended in certain cases of trauma or panophthalmitis or if better postoperative cosmesis is promised to the patient if the eye is preoperatively presumed to be free from any intraocular tumor. Our case did not reveal any tumor, even on ultrasound examination.
- Shields JA, Shields CL. Retinoblastoma: introduction, genetics, clinical features, classification. In: Shields JA, Shields CL. Intra-ocular Tumors: An Atlas and Textbook, 2nd ed. Philadelphia: Lippincott, Williams and Wilkins; 1999:207–241.
- Abramson DH, Ellsworth RM, Grumbach N, et al. Retinoblastoma: correlation between age at diagnosis and survival. J Pediatr Ophthalmol Strabismus. 1986;23:174–177.
- Spaulding AG, Naumann G. Unsuspected retinoblastoma: enucleation in an 11-year-old girl following injury and panophthalmitis. Arch Ophthalmol. 1966;76:575–577.
- Shields CL, Honavar S, Shields JA, Demirci H, Meadows AT. Vitrectomy in eyes with unsuspected retinoblastoma. Ophthalmology. 2000;107:2250–2255. doi:10.1016/S0161-6420(00)00427-9 [CrossRef]
- Andrew JM, Smith DR. Unsuspected retinoblastoma. Am J Ophthalmol. 1965;60:536–540.
- Byrnes GA, Shields CL, Shields JA, De Potter P, Eagle RC Jr, . Retinoblastoma presenting with spontaneous hyphema and dislocated lens. J Pediatr Ophthalmol Strabismus. 1993;30:334–336.
- Shields JA, Shields CL, Materin M. Diffuse infiltrating retinoblastoma presenting as a spontaneous hyphema. J Pediatr Ophthalmol Strabismus. 2000;37:311–312.
- Shields CL, Shields JA, Shah P. Retinoblastoma in older children. Ophthalmology. 1991;98:395–399.
- Materin MA, Shields CL, Shields JA, Eagle RC Jr, . Diffuse infiltrating retinoblastoma simulating uveitis in a 7-year-old boy. Arch Ophthalmol. 2000;118:442–443.