Atypical Presentation of Bilateral Retinoblastoma with Floaters and Sub-Internal Limiting Membrane Seeds in an 11-Year-Old Asian Indian Male

Abstract

Purpose

To report bilateral retinoblastoma in an 11-year-old child presenting with floaters and sub-internal limiting membrane (sub-ILM) seeds.

Method

An 11-year-old child presented with floaters of 4 months' duration. Examination revealed circumscribed, whitish, subhyaloid, floccular nodules in the juxtapapillary region of both eyes. No solid tumor was seen. Swept-source optical coherence tomography revealed moderately reflective echoes in the sub-ILM space. Vitreous aspiration of sub-ILM deposits and cytopathological examination revealed retinoblastoma. Intravitreal melphalan (20 μg/0.02 mL) was followed by 6 monthly cycles of high-dose systemic chemotherapy (vincristine, etoposide, carboplatin). Metastatic workup and genetic testing for RB1 mutational screening were negative. Ocular lesions resolved after 13 weeks of treatment. Brain metastases developed after 20 weeks and were treated with radiation. Bilateral vitreous seeds recurred at 44 weeks and were treated with intravitreal chemotherapy (melphalan 20 μg/0.02 mL and topotecan 20 μg/0.02 mL). There was no extra-ocular spread from sclerotomy sites.

Results

Retinoblastoma and brain metastases resolved with multimodal treatment without recurrence at 59 weeks of follow-up.

Conclusion

Atypical manifestation of retinoblastoma can be seen in older children presenting with “floaters” and bilateral deposits of sub-ILM seeds, without solid tumor.