Extraocular Retinoblastoma: Experience of the Portuguese National Referral Center

Abstract

INTRODUCTION: Retinoblastoma is named extraocular when there is invasion of the orbit, optic nerve or meninges. With the therapeutic options currently available, and with an early diagnosis, survival rates for intraocular retinoblastoma surpass 90%. However, extraocular retino-blastoma is known to be associated with higher mortality rates. The purpose of this study was to characterize the population of patients with extraocular retinoblastoma referred to the National Referral Center, the therapeutic strategies implemented and their prognosis.
METHODS: Retrospective observational study including patients with extraocular retinoblastoma referred to the Portuguese Referral Center for Onco-Ophthalmology (Centro Hospitalar e Universitário de Coimbra). All children were evaluated and managed by a multidisciplinary team including ophthalmologists, pediatric oncologists and neuroradiologists. The staging system used was the one proposed by the American Joint Commission on Cancer (AJCC, 8th edition).
RESULTS: A total of 10 patients (12 eyes), 30% female, were included between September of 2015 and September of 2023. All patients had been evacuated from Africa. Five (50%) had orbital invasion and 8 (80%) had optic nerve invasion. The mean age at diagnosis was 34.9±14.8 months. Five patients (50%) had bilateral retinoblastoma. One patient developed pinealoblastoma and another developed central nervous system invasion. Symptoms at presentation were leukocoria (80%), strabismus (60%) and buphthalmus (50%). The mean time between the first symptoms and referral to CHUC was 15.5±10.1 months. Eight eyes of seven patients (70%) were enucleated, and two patients (20%) had exenteration. Eight patients (80%) received systemic chemotherapy, three (30%) adjuvant radiotherapy and two (20%) had only palliative care. During the follow-up period (mean 19.6±18.2 months), the survival rate was 60%.
CONCLUSION: Extraocular retinoblastoma manifested in patients with a mean referral delay of over one year, in patients evacuated from Africa. It demands aggressive multimodal treatment, without preservation of the eye, and, despite this, it is still associated with a high mortality rate (40%) in our sample. It is mandatory to implement national and international measures which improve early diagnosis and fast referral of these patients, in order to improve their functional and vital prognosis.