Neuro-Ophthalmic Characteristics of Patients with Tuberous Sclerosis Complex at a Tertiary Care Referral Centre.

Abstract

Tuberous Sclerosis Complex (TSC) is a multisystem neurocutaneous disorder with multiple neuro-ophthalmologic manifestations. The ophthalmologist plays an important role in the multi-disciplinary care team and should be familiar with this condition and its neuro-ophthalmic associations. A retrospective review of patients with TSC presenting to a neuro-ophthalmology clinic between 2015 and 2023 was performed. Patients had a diagnosis of TSC based on genetic testing or clinically definite disease (CDD) and at least one ophthalmic exam. We identified 135 patients. The mean age at the first exam was 14.1 ± 13.0 years. Seventy-three patients (54%) had retinal astrocytic hamartoma (RAH), bilateral in 33 (46%). Patients with TSC2 mutations and CDD were more likely to have RAHs than patients with TSC1 (p < .0005, <0.0001, respectively). In 60 patients where near-infrared reflectance (NIR) imaging guided optical coherence tomography (OCT) was performed, 23 (38%) had RAHs identified that were not seen on fundoscopy. Patients with subependymal giant cell astrocytoma (SEGA) were more likely to have RAHs than patients without (p = .037). The incidence of RAH and achromic patches was similar in patients with vs without TSC-associated neuropsychiatric disorders (TAND). Hamartoma were more common in patients with TSC2 mutations, CDD, and/or SEGA. NIR-guided OCT helps identify RAHs not seen on fundoscopy. Ocular involvement was not related to TANDs.