1	Tuberous Sclerosis Grace Lee, MD
2	HPI 23 yo pregnant female came for routine ophthalmic evaluation
3	PMH Pt has a documented history of tuberous sclerosis and multiple leiomyomas scattered throughout her body
4	Clinical Exam VA: OD 20/30; OS 20/25 Pupils: No APD EOM: full OU SLE: Ant. Segment WNL. Irides were clear DFE: OD: mulberry-like lesions typical of retinal hamartomas OS: no lesions detected
5	Dilated Fundus Photography - OD
6	CT Scan Demonstrates bilateral corpus callosum astrocytomas with cortical, subcortical and subependymal hamartomas.
7	CT Scan cont’
8	CT Scan cont’
9	Tuberous Sclerosis Complex (Bourneville’s Disease) One of the phakomatoses (a heredofamilial neurocutaneous syndrome) About one third of cases are familial, whereas two thirds are sporadic. Complete syndrome is characterized by: Multifocal, bilateral retinal astrocytic hamartomas Unusual cutaneous lesions Astrocytic tumors of the brain Seizures Mental retardation
10	"Hamartomatous lesions may involve skin" Hamartomatous lesions may involve skin, brain, kidney, eyes and heart The condition is a developmental disorder of cell migration, proliferation and differentiation, and produces angiofibromas and astrocytic hamartomas involving multiple organs
11	Ocular Manifestation Astrocytic hamartomas found in the eye appear as “mulberry or tapioca” lesions of the retina or optic disc This lesion arises within the nerve fiber layer of the retina Dermatologic findings may include angiofibromas on the lids, cutaneous ash leaf spots, adenoma sebaceum of the face, and café-au-lait spots.
12	Neurologic Manifestations Brain lesions are of three kinds: Cortical tubers (astrocytic hamartomas) White matter abnormalities Subependymal nodules Cortical tubers are pathognomonic of cerebral tuberous sclerosis Seizures occur in 96% of patients, which often begin in the first months of life and are frequently severe and intractable Uncontrolled growth of subependymal giant cell astrocytomas may lead to hydrocephalus and death