Tuberous Sclerosis Complex

Introduction

A genetic multisystem disorder causing widespread hamartomas in organs such as the brain, heart, skin, eyes, kidney, lung and liver. In the eyes, it is responsible for retinal hamartomas, such as the retinal astrocytoma.
- It is an AD condition, impacting the TSC1 and TSC2 genes
- Around 60% cases are sporadic
- Affects ~1 in every 30,000 to 50,000 births

Dead Giveaways

Since this website has covered retinal astrocytomas, please refer to that. That is the only ocular sign that suggests TSC.

Other Diagnostic Signs:

Hypomelanotic Macules
Facial angiofibromas
Shagreen Patch
Hyperechoic rhabdyomyoma on echocardiography

diagnostic features

Signs:

Includes hypomelanotic macules
White leaf-shaped spots
Shagreen patch
Hyperechoic rhabdomyoma detected by echocardiography
Retinal Hamartoma
Lymphatic change