J Korean Ophthalmol Soc.  1996 Jan;37(1):203-209.

A Case of Bilateral Tuberous Sclerosis

Affiliations
  • 1Department of Ophthalmology, College of Medicine, Dankook University, Chungnam, Korea.

Abstract

Tuberous sclerosis is a rare multisystem syndrome characterized by hamartomatous tumors of the brain, skin, viscera, and eye. The diagnostic triad for this disease, proposed by Vogt, included epilepsy, mental retardation, and adenoma sebaceum. In eyes, retinal hamartomas and optic nerve phacoma are observed over 50% and hypopigmented areas of peripheral retina and iris are often found. We introduce an 18-year old girl with adenoma sebaceum of the face, history of epilepsy and insignificant mental retardation status. She also had a retinal hamartoma in her right eye, optic nerve phacoma in her left eye, shagreen patch on lumbosacral area, angiomyolipoma of both kidneys, periventricular subependymal nodules and calcified cortical nodule of occipital lobe of brain.

Keyword

Optic nerve phakoma; Retinal hamartoma; Tuberous sclerosis

MeSH Terms

Adolescent
Angiomyolipoma
Brain
Epilepsy
Female
Hamartoma
Humans
Intellectual Disability
Iris
Kidney
Occipital Lobe
Optic Nerve
Retina
Retinaldehyde
Skin
Tuberous Sclerosis*
Viscera
Retinaldehyde
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