| A Case of Bilateral Tuberous Sclerosis. |
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Jun Young Ji, Jong Hoon Lee, Woong San Choi |
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Department of Ophthalmology, College of Medicine, Dankook University, Chungnam, Korea. |
| 양안에 발생한 결절성 경화증 1예 |
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지준영(J Y Ji),이종훈(J H Lee),최웅산(W S Choi) |
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| Abstract |
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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. |
| Key Words:
Optic nerve phakoma;Retinal hamartoma;Tuberous sclerosis |
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