Grace Lee, MD
23 yo pregnant female came for routine ophthalmic evaluation
Pt has a documented history of tuberous sclerosis and multiple leiomyomas scattered throughout her body
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
Dilated Fundus Photography - OD
Demonstrates bilateral corpus callosum astrocytomas with cortical, subcortical and subependymal hamartomas.
CT Scan cont’
CT Scan cont’
Tuberous Sclerosis Complex
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
"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
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.
Brain lesions are of three kinds:
Cortical tubers (astrocytic hamartomas)
White matter abnormalities
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