Abstract To characterize the clinicopathological spectrum of retinal astrocytic lesions in tuberous sclerosis complex (TSC) occurring in conjunction with central nervous system (CNS) involvement, with emphasis on histopathologically confirmed CNS disease and paired brain–eye correlation. A case-based narrative review of the literature from 1993 to 2024 was performed to identify the individual patients with TSC in whom retinal astrocytic lesions and CNS abnormalities were documented concomitantly. Patient-level demographic, ocular, neuroimaging, histopathologic, and management data were extracted. In addition, we report the new case of a 23-year-old patient with TSC presenting with a large retinal astrocytic hamartoma and biopsy-proven subependymal giant cell astrocytoma (SEGA), supported by multimodal retinal imaging, neuroimaging, and CNS histopathology. Twenty-four published patients met inclusion criteria, and one new institutional case was added, yielding a total of 25 patients. CNS histopathological confirmation was uncommon and documented in only three patients across the entire dataset, including the present case. Retinal astrocytic lesions exhibited marked heterogeneity in morphology, laterality, and clinical behavior, ranging from stable hamartomas to aggressive, vision-threatening tumors. SEGA was explicitly reported in approximately one-third of cases, although retinal severity did not consistently correlate with SEGA status. This study provides the most comprehensive patient-level synthesis to date of concurrent retinal and CNS involvement in TSC and highlights the rarity of histopathologic confirmation in published reports. The inclusion of a biopsy-proven SEGA case with direct clinicopathological correlation strengthens the evidence base and underscores the importance of integrated ophthalmic and neurologic evaluation in TSC.
Barros et al. (2026) studied this question.