J Korean Ophthalmol Soc.  1999 Aug;40(8):2337-2342.

One Case of Tuberous Sclerosis

Affiliations
  • 1Department of Ophthalmology, College of Medicen, Ewha Womans University, Tongdaemun Hospital, Seoul, Korea.

Abstract

Tuberous sclerosis is a rare, autosomal dominant syndrome, in which tumors of the brain, skin, viscera,and eye are found. The classical diagnostic triad included epilepsy, mental retardation, and adenoma sebaceum. Retinal harmatomas are the most common ocular abnormalities in patients with tuberous sclerosis. We experienced one case of tuberous sclerosis that showed adenoma sebaceum of the face, history of epilepsy. The 18 year old male patient also had optic nerve phakoma in his right eye, retinal harmatomas in his left eye, Shagreen patch on the left lumbar area, subependymal nodules along the lateral ventricle and cortical tuber of frontal lobe.

Keyword

Optic nerve phakoma; Retinal harmatoma; Tuberous sclerosis

MeSH Terms

Adolescent
Brain
Epilepsy
Frontal Lobe
Humans
Intellectual Disability
Lateral Ventricles
Male
Optic Nerve
Retinaldehyde
Skin
Tuberous Sclerosis*
Retinaldehyde
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