Retinoblastoma presenting as haemorrhagic choroidal detachment in a 10-year-old girl

Abstract

To report a case of retinoblastoma presenting as haemorrhagic choroidal detachment in a 10-year-old girl. The patient, apparently well, presented with sudden blurring of vision in the setting of blunt trauma. On examination and ocular ultrasound, haemorrhagic choroidal detachment was suspected. She underwent external drainage via sclerostomies. The haemorrhage resolved ultrasonographically, but the vision did not improve. Five months postoperatively, she presented with sudden eye pain, lid swelling and proptosis. The ancillary workups were consistent with panophthalmitis and was treated as such. Six months postoperatively, the pain and lid swelling persisted; hence, the painful near absolute eye was enucleated. The histopathology revealed small round blue cells with necrosis consistent with retinoblastoma. Immunohistochemistry was positive for synaptophysin and negative for S100 confirming retinoblastoma. Retinoblastoma is the most common intraocular malignancy in children. The importance of increased awareness of its various presentations is of utmost importance to prevent life-threatening and vision-impairing complications.

Background

Retinoblastoma is the most common intraocular malignancy in children occurring approximately 1 in 15 000 to 18 000 live births and continuous to be the most common intraocular malignancy in children between 0 and 5 years of age.¹ Most cases of the retinoblastoma are sporadic, while only around 6% are familial.² Spontaneous haemorrhagic choroidal detachment is a rare, sight-threatening condition where choroidal haemorrhage detaches the intraocular contents from the sclera.³ The predisposing factors of this condition include advanced age (>60 years old), systemic hypertension, arteriolosclerosis, blood coagulation defects, intraocular mass, diabetic mellitus and intraoperative tachycardia.⁴ In incisional intraocular surgery, haemorrhagic choroidal detachment is one of the most dreaded complication.⁵ Acute hypotony triggers changes in transluminal vascular pressure resulting to choroidal effusion and rupture of arteries within the suprachoroidal space.⁶ Ocular risk factors include glaucoma procedures, high myopia, aphakia and pseudophakia.⁷ Choroidal effusion and haemorrhage have been reported in intraocular mass or metastatic invasion of the choroid.⁸ Blunt trauma causing anteroposterior compression of the globe may result to haemorrhagic choroidal detachment.⁹ The management of this condition is external drainage of the blood through posterior sclerostomies with or without vitrectomy. Despite intervention, haemorrhagic choroidal detachment normally results in poor functional and visual outcomes.^{10 11}

In this case, enucleation was done for the painful poor visual potential eye with haemorrhagic choroidal detachment, which revealed histopathologically to be retinoblastoma. We report what we believe is the first case of retinoblastoma presenting as haemorrhagic choroidal detachment.

Case presentation

A 10-year-old girl consulted due to blurring of vision of the left eye. She was allegedly asymptomatic until 2 weeks prior to consult, when the patient was kicked on the left eye by her younger sibling. She immediately noted blurring of vision of the left eye for which she sought consult at our institution.

On examination, the best corrected visual acuity of the right eye was 20/20 and hand movement with fair light projection for the left eye. The pupil of the right eye 4 mm briskly reactive to light with positive reverse relative afferent pupillary defect, while the pupil of the left eye was 4 mm non-reactive to light. The left eye had a formed anterior chamber with blood-tinged aqueous and clear lens. Vitreous haemorrhage obscured the view of the posterior segment. The intraocular pressure (IOP) of the right eye was 14 mm Hg, and 56 mm Hg for the left eye. The gonioscopy showed angles which open to ciliary body band on all quadrant for the right eye and closed on all quadrants for the left eye. Ocular ultrasound of the left eye (figure 1) revealed two dense mid-amplitude dome-shaped elevations extending from the superior and inferior peripapillary area to the superior and inferior periphery with fair aftermovement on dynamics and dense, low-amplitude dot echoes in the vitreous with good aftermovement on dynamics. The patient was assessed to have traumatic haemorrhagic choroidal detachment and secondary angle closure glaucoma of the left eye.

Figure 1.

Ocular ultrasound of the left eye showing dome-shaped elevations with medium internal reflectivity extending from the superior and inferior peripapillary area to the superior and inferior periphery with fair aftermovement. There are dense, low-amplitude dot echoes in the vitreous with good aftermovement.

The patient was placed on oral prednisone (1 mg/kg/day) for 7 days. IOP of the left eye was 40 mm Hg, despite topical betaxolol and dorzolamide, and oral acetazolamide. External sclerostomies 8 mm from the limbus superonasally and inferotemporally was performed with drainage of 3 mL of dark brown fluid.

One day postoperatively, the visual acuity was light perception, and the IOP was 16 mm Hg. Fresh vitreous haemorrhage was seen. Ocular ultrasound showed decrease in the size of the dome-shaped elevation.

Three months postoperatively, the visual acuity of the patient’s left eye remained light perception with IOP at 40 mm Hg. The ocular ultrasound (figure 2) revealed dense, moderate amplitude dot echoes filling the entire vitreous cavity. Pars plana vitrectomy was suggested, but the family refused surgical intervention.

Figure 2.

Repeat ocular ultrasound of the left eye showing dense, moderate amplitude dot echoes filling the entire vitreous cavity.

Five months postoperatively, the patient returned with sudden pain of the left eye associated with lid swelling and proptosis (figure 3). On examination of the left eye, visual acuity was light perception with gross proptosis, chemosis and lid swelling. Extraocular movement was limited on all gazes with pain on eye movement. The IOP was at 35 mm Hg. Orbital CT (figures 4 and 5) showed proptosis of the left eye with thickening of the ocular coats and peribulbar and retrobulbar haziness with no masses or calcifications. The patient was suspected to have panophthalmitis and was given antibiotics with relief of pain.

Figure 3.

Photograph of the patient showing left lid swelling and chemosis.

Figure 4.

Axial orbital CT scan showing proptosis of the left eye with thickening of the ocular coats and peribulbar and retrobulbar haziness with no masses or calcifications.

Figure 5.

Coronal orbital CT scan showing thickening of the ocular coats and peribulbar haziness with no masses or calcifications.

Six months postoperatively, she reported persistence of lid swelling and pain. Visual acuity of the patient’s left eye was light perception. Slit lamp examination revealed shallow chamber with 6 mm hyphema and IOP of 5 mm Hg. Enucleation of the left eye was performed for pain control. Intraoperatively, dark brown extrascleral nodules were found in the sclerotomy sites.

The gross section of the globe (figure 6) showed a yellowish mass filling the vitreous cavity with extrascleral extension. On microscopic examination (figure 7), the vitreous cavity is occupied by a proliferation of small round blue cells interspersed with red blood cells and areas of necrosis. There was extrascleral extension and involvement of optic nerve cut end.

Figure 6.

Gross cut section of the left globe showing hard yellowish mass filling the vitreous cavity with extrascleral extension.

Figure 7.

(A) Microscopic examination of the left globe on low power magnification showing that the vitreous cavity is occupied by a proliferation of small round blue cells interspersed with red blood cells with necrosis. (B) On high power magnification, there are numerous poorly differentiated tumour cells with large hyperchromatic nuclei, scanty cytoplasm and numerous mitotic figures.

Immunohistochemistry was positive for synaptophysin and negative for S100. The patient was diagnosed to have extraocular retinoblastoma with extrascleral extension. Adjuvant chemotherapy and radiotherapy for extraocular retinoblastoma is planned for the patient.

We presented a case of sporadic retinoblastoma manifesting as a post-traumatic haemorrhagic choroidal detachment. The unusual presentation misleads the clinicians to the appropriate diagnosis resulting on delay on management.

Differential diagnosis

An important differential diagnosis in a child presenting with recurrent bleeding in the eye is congenital retinal arteriovenous malformation. It is a rare, non-hereditary vascular disorder. Most cases are stationary and do not show any anatomical progression. In rare instances, it may cause sudden or gradual vision loss because of venous occlusion and recurrent intraretinal or vitreous haemorrhage. The diagnosis is based on the typical ophthalmoscopic appearances of dilated and tortuous vessels. Fluorescein angiography demonstrates the high-flow arteriovenous communications and adjacent areas of retinal capillary dropout.¹²

Another differential is choroidal haemangiomas. These are sporadic, congenital hamartomas typically associated with Sturge-Weber syndrome. The median age of diagnosis is 5–7 years of age. These are detected in babies undergoing ophthalmoscopy because of the presence of the facial port-wine skin. In some cases, vascular changes in the episcleral and subconjunctival perilimbal tissues which can result to secondary glaucoma.¹³ This can be excluded by the absence of facial port-wine skin.

Outcome and follow-up

The patient was diagnosed to have extraocular retinoblastoma and was planned for adjuvant chemotherapy and radiotherapy. The three siblings were screened with indirect ophthalmoscopy for retinoblastoma and were noted to be all negative.

Discussion

Retinoblastoma mostly presents with leucocoria and strabismus. Table 1 shows the most common presentations of retinoblastoma.¹⁴ The presenting signs and symptoms strongly suggest the stage or degree of disease. The intraocular stage of the disease mostly will present with leucocoria and strabismus. The painful glaucomatous stage may indicate a more advanced intraocular disease. The extraocular extension with tumour necrosis will usually present as orbital cellulitis.¹⁵ The advanced stages will present with proptosis and possibly systemic metastasis.¹⁶

Table 1.

Common presentations of retinoblastoma

Leucocoria	56%
Strabismus	20%
Red painful eye (glaucoma)	7%
Poor vision	5%
Asymptomatic	3%
Orbital cellulitis	3%
Unilateral mydriasis	2%
Heterochromia iridis	1%
Hyphema	1%

The diagnosis of retinoblastoma include complete clinical history and careful examination of the fundus, supplemented by ocular B-scan ultrasonography.¹⁶ The detailed visualisation of the tumour with indirect ophthalmoscopy is diagnostic in 90% of the cases.¹⁵ The ocular B-scan ultrasonography will show a rounded or irregularly shaped intraocular mass with high internal reflectivity suggestive of intralesional calcifications. The CT and MRI highlight intralesional calcification and may detect extraocular or intracranial extension.¹⁷

The majority of retinoblastoma cases will present with leucocoria or strabismus. The clinical evidence of an intraocular mass with intralesional calcification is seen either funduscopically or by imaging. In the retrospective study by Levy et al, the calcification in retinoblastoma was present in 84.9% of the 302 cases they reviewed. They noted that calcification was frequent in cases with more necrosis and with choroidal invasion.¹⁸ A rare subtype of retinoblastoma is the diffuse infiltrating retinoblastoma and accounts for about 2% of the cases. It is characterised by its diffuse growth pattern, infiltrating the retina and vitreous without a tumorous mass. The symptoms of this subtype usually mimics inflammatory diseases, thus making its diagnosis difficult. It may present as vitreous cells, pseudohypopyon, subretinal fluid, iris neovascularisations and heterochromia and retinal detachment.¹⁷ Retinoblastoma may present atypically in less than 1% of the cases. It may present as endophthalmitis, phthisis bulbi, microphthalmia, iris nodules, cataract and exposure keratopathy.^{18 19}

The patient initially presented with sudden blurring of vision of the left eye following a blunt trauma event. Ocular ultrasound showing bilobed lesion without any calcification and read as haemorrhagic choroidal detachment. External drainage of the choroidal haemorrhage via sclerostomies drained darkish brown fluid typical of haemorrhagic choroidal detachment. It was only on histopathological evaluation of the enucleated globe that retinoblastoma was detected.

The importance of this case is to remind all clinicians to rule out conditions such as neoplasms even in the setting of trauma or a known aetiological cause of a disease. Tumours may masquerade as other diseases, and delaying appropriate diagnosis and management. A neoplasm should be considered in any case of recurrent or non-resolving ocular haemorrhage in a child with no other risk factors. Timely diagnosis is warranted in all cases of neoplasms for appropriate management.

Learning points.

• Retinoblastoma is the most common intraocular malignancy in children and may present in various ways.

• Malignancy do not present the same way all the time, hence, a high index of suspicion is always needed.

• A neoplasm should be considered in any case of recurrent or non-resolving ocular haemorrhage in a child with no other risk factors.

• Timely diagnosis is warranted in all cases of neoplasms for appropriate management and avoidance of unnecessary procedures and any delay which may increase tumour growth and decrease the chances of better survival.