Year : 2021 Month : October Volume : 10 Issue : 40 Page : 3554-3556

Atypical Retinoblastoma Presentation - A Challenge for the Treating Ophthalmologist

Siti Amra Abd Rahman1, Ahmad Salehuddin Mohammad2, Safinaz Mohd Khialdin3, Siti Norzalehawati Sepain Jusoh4

1, 3 Department of Ophthalmology, University Kebangsaan Malaysia Medical Centre (UKMMC), Kuala Lumpur, Malaysia. 2 Department of Ophthalmology, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia. 4 Department of Ophthalmology, Hospital Sultanah Nurzahirah, Kuala Terengganu, Terengganu Malaysia.


Dr. Siti Amra Abd Rahman Department of Ophthalmology, University Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif, Cheras - 56000, Kuala Lumpur, Malaysia.
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Retinoblastoma is the most common primary intraocular malignancy in children.1 Incidence of retinoblastoma is constant worldwide at one case per 15000–20000 live births, which corresponds to about 9000 new cases every year.2,3 It usually occurs in children under five years of age and can lead to loss of vision, and in extreme cases, death.4

The common signs of its presentation are leukocoria, strabismus, secondary glaucoma, proptosis, anterior chamber inflammatory signs and spontaneous hyphaema.1 Prognosis for vision and survival has significantly improved due to timely diagnosis and improved treatment methods.5


A 2.5-year-old girl was referred to the ophthalmology clinic for right eye white reflex associated with acute bilateral upper and lower limb weakness and urinary retention. Upon further history taking, right leukocoria was first noticed by her mother at 1.5 years and unfortunately, was only referred to an ophthalmologist at two years of age. Thorough investigations were done. The magnetic resonance imaging (MRI) radiographic findings were consistent with persistent foetal vasculature (Figure 1).


On this second presentation, ocular examination findings of the right eye revealed ciliary injection and generalized cornea haziness with early band keratopathy changes. The anterior chamber was deep with the presence of blood clots mixed with whitish materials on the iris stroma, which was highly suspicious of metastatic tissue. The right posterior segment was obscured by a retrolental reddish-yellowish hue. She was then proceeded with an ultrasonography study, in which there was no intrinsic mass calcification detected (Figure 2). Fortunately, her left eye revealed normal ocular findings. Clinically, it was strongly suspicious of right retinoblastoma.



As expected, her repeated MRI study was highly suggestive of right retinoblastoma with spinal metastasis disease (Figure 3), which reported as right vitreous cavity mass with local and leptomeningeal extension metastases in the brain and spine.



Alas, cerebrospinal fluid samples which were sent twice for full metastatic workup reported negative malignant cells. Nevertheless, she received three cycles of chemo reduction with intrathecal methotrexate and MRI orbit post-chemotherapy showed significant reduction of the intraorbital lesion (Figure 4).



The patient missed a few follow-up visits due to the enucleation being a hard decision for the parents. Her return for follow up was brought by new symptoms of right corneal ulcer with an anal abscess. Subsequently, right enucleation (Figure 5) with the implant was carried out after the third cycle of chemoreduction simultaneous with a permanent colostomy.

Histopathology revealed solitary retinoblastoma with Bruch membrane and focal choroidal invasion. There was no evidence of optic nerve invasion and the resected margin of the optic nerve was clear. She was planned for a total of nine cycles of chemotherapy based on spinal protocols. Unfortunately, she succumbed to death a few months later due to multi-organ failure.