132 - Tuberous sclerosis and the eye

Abstract

Tuberous sclerosis complex (TSC) is a multisystem neuro-cutaneous genetic disorder with an estimated incidence of 1:5800 live births. It can affect every organ system, characterized especially by hamartomas (benign tumors) of the skin, brain, kidneys, lung, heart, and eye, leading to organ dysfunction and disability. The classic triad includes seizures, intellectual disability, and cutaneous angiofibromas, which, however, only occur in 29% of cases. A definitive diagnosis is essential to implement appropriate surveillance and treatment for patients with this disorder. A pathogenic mutation in TSC1 or TSC2 is an independent diagnostic criterion, sufficient for the diagnosis of TSC regardless of the clinical findings, defined as a mutation that prevents protein synthesis or inactivates the function of TSC1 or TSC2 protein, hamartin and tuberin, respectively. However, a significant fraction (10%–25%) of patients with TSC have no mutation identified by conventional testing. Therefore a normal result does not exclude TSC. Specific guidelines for clinical and genetic diagnosis and management were published by the 2012 International Tuberous Sclerosis Complex Consensus Group. The systemic and eye features of TSC are reviewed with comment on updated surveillance and treatment efforts based on organ involvement.