Background: Retinoblastoma (Rb) complicated by congenital and developmental cataracts is extremely rare. We report a case of unilateral Rb complicated by bilateral developmental cataract and its treatment course.
Patient: A 1-year and 3-month-old girl was presented to a local clinic because of white pupil developed in the right eye. She was diagnosed with bilateral cataracts and was referred to our hospital for close examination and treatment. Initial examination revealed no nystagmus and poor fixation with exotropia in the right eye. She had severe cataracts in both eyes; the fundus in both eyes was not visible. B-mode ultrasonography revealed an elevated lesion in the right eye that was suspicious for Rb. A systemic investigation was performed for differential diagnosis. Computed tomography revealed a tumor with calcification filling the right eye, but systemic findings were normal. Head magnetic resonance imaging revealed no extraocular or optic nerve invasion. A fundus examination performed in the most peripheral area under general anesthesia showed Rb〔International Classification of Retinoblastoma (ICRB): group D〕with vitreous seeding in the right eye and no abnormalities in the left eye. Enucleation of the right eyeball was performed promptly. Pathological examination of the enucleated right eye confirmed Rb diagnosis, and adjuvant chemotherapy was indicated due to choroidal infiltration. On postoperative day 11, she underwent lensectomy and anterior vitrectomy in the left eye, and intraoperative fundus examination revealed no abnormalities. Six courses of the VEC regimen (vincristine+etoposide+carboplatin) were administered, and no complications or metastases occurred 6 months postoperatively. The corrected visual acuity in the left eye was 20/190 based on the Teller Acuity Card.
Conclusions: We experienced a rare case of Rb in a child with cataracts. If abnormalities are detected on the initial ultrasonography, a detailed examination should be performed promptly to rule out the possibility of malignancy.
Nippon Ganka Gakkai Zasshi (J Jpn Ophthalmol Soc) 127: 563-569,2023.