A Case of Tuberous Sclerosis Complicated by Bilateral Blindness

Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Its primary clinical manifestations include facial angiofibromas, epilepsy, and intellectual disability. This article reports a case of a 16-year-old female patient with TSC. Genetic testing identified a heterozygous mutation in the TSC2 gene, a known pathogenic variant associated with TSC. The diagnosis was confirmed based on the presence of subependymal giant cell astrocytoma, facial angiofibromas, and other characteristic features. Additionally, the patient exhibited bilateral optic atrophy with no light perception. This case enhances clinicians' understanding of the diverse clinical manifestations and complications of TSC, providing valuable insights for the diagnosis of this disease.