Late Presentation of Retinoblastoma in a Teen with Aicardi Syndrome

Background/Aims: Retinoblastoma (Rb) generally presents in children <8 years of age. Aicardi syndrome (AS) is a congenital, neurodevelopmental disorder that has been associated with various ophthalmic abnormalities, but no reports have related it to a delayed presentation of Rb. This report describes the late presentation of Rb in a teenage patient with AS and suggests modifications in ophthalmic screening to facilitate early detection. Methods: A chart review was conducted of a patient with AS. We examined the ophthalmic history, fundus images and B-scan ultrasonography. Histopathological analysis was conducted on globe sections. Results: The patient's ophthalmic history was consistent with normal findings of AS: fundus images and B-scan ultrasonography revealed chorioretinal lacunae and an area of retinal detachment, respectively. The patient presented with chronic irritation and mydriasis of the blind left eye. This was enucleated as treatment. Histopathology revealed a focally differentiated Rb. Immunohistochemistry demonstrated that the tumor cells were positive for synaptophysin and negative for the wild-type Rb protein, and a high Ki-67 proliferation index was shown. Conclusion: Our patient was diagnosed with Rb at age 16. AS has been associated with numerous ophthalmic findings, but this is the first report relating it to a late Rb presentation. Meticulous ophthalmic examinations should be considered through the teenage years and early adulthood of AS patients.