One Case of Tuberous Sclerosis.

Lee, Jae Hyung; Han, Kye Sook; Han, Young Bock

Case Report

Journal of the Korean Ophthalmological Society 1999;40(8):2337-2342.
Published online August 1, 1999.

One Case of Tuberous Sclerosis.

Jae Hyung Lee, Kye Sook Han, Young Bock Han

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

결절성 경화증 1례

이재형(Jae Hyung Lee),한계숙(Kye Sook Han),한영복(Young Bock Han)

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.

Key Words: Optic nerve phakoma;Retinal harmatoma;Tuberous sclerosis