The Eyes Have It: Congenital and Hereditary Systemic Diseases

Tuberous Sclerosis: Astrocytic Hamartoma

This mound on the retinal surface is a collection of astrocytes. Some lesions are located more peripherally in the retina and can be subtle, gray plaques. Some observers believe that the plaques grow into mulberries. But most lesions show little or no growth and vision is usually unaffected. Their importance? They are found in 50% to 80% of patients with tuberous sclerosis (Bourneville's disease).

Tuberous sclerosis (Bourneville's disease) is an autosomal dominant disorder with a defective chromosome 9.

The diagnosis is based on fulfilling one major criterion (facial angiofibroma, ungual fibroma, subependymal hamartoma on brain imaging, and at least two retinal hamartomas) or two minor criteria (infantile spasms, hypopigmented skin macules, shagreen patch, bilateral renal angiomyolipomata or cysts, cardiac rhabdomyoma, a first-degree relative with the disease, or a single retinal hamartoma).

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Originally created by Jonathan Trobe, M.D., University of Michigan Kellogg Eye Center
© 2009 The Regents of the University of Michigan

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