Ocular findings in a Case of Tuberous Sclerosis Complex: A Classic Posterior Segment Presentation

Tuberous Sclerosis Complex (TSC) is a genetic condition caused by autosomal dominant mutations in the tumour suppressor genes TSC1 and TSC2. The most frequent manifestations of this disorder involve benign tumours affecting multiple systems, including neurological, dermatological, renal, cardiac, pulmonary and ocular systems. The classic symptom triad consists of seizures, intellectual disability and cutaneous angiofibromas. Ocular involvement, though often asymptomatic, can reveal characteristic retinal lesions that are valuable for diagnosis and monitoring. A 23-year-old female with a recent diagnosis of TSC was referred to the Department of Ophthalmology for evaluation. She had no visual complaints. Examination revealed characteristic facial angiofibromas and bilateral Retinal Astrocytic Hamartomas (RAH) without any visual impairment. Computed Tomography (CT) imaging also showed bilateral renal angiomyolipomas. Ocular involvement in TSC is common but often asymptomatic. RAH are the most frequent ocular manifestations and are usually stable over time. Recognising these findings can support diagnosis and systemic evaluation, especially in undiagnosed patients. Ocular examination plays an essential role in the multidisciplinary assessment of TSC, aiding in both diagnosis and monitoring. Awareness of these subtle but significant findings is important for early and holistic management.