J Korean Ophthalmol Soc.  1995 Feb;36(2):355-360.

A Case of Tuberous Sclerosis

Affiliations
  • 1Department of Ophthalmology, College of Medicine, I-Hwa Weman University, Seoul, Korea.

Abstract

Tuberous sclerosis is a heredofamilial disease associated with the diagnostic triad of epilepsy, mental retardation, and skin lesions, adenoma sebaceum. Retinal hamartomas are the most common ocular abnormalities in patients with tuberous sclerosis and are classified as three types: 1) large whitish calcified nodular masses, 2) flat transluscent noncalcified smooth tumors, and 3) intermediate type. We introduce a case on 22 year-old male of tuberous sclerosis who was manifested by epilepsy, adenoma sebaceum without mental retardation. And he was characterized by multiple flat transluscent noncalcified type of retinal astrocytic hamartoma accompanied by Shagreen patch, sclerotic calcification in skull and angiomyolipoma on both kidneys.

Keyword

Tuberous Sclerosis; Retinal hamartoma

MeSH Terms

Angiomyolipoma
Epilepsy
Hamartoma
Humans
Intellectual Disability
Kidney
Male
Retinaldehyde
Skin
Skull
Tuberous Sclerosis*
Young Adult
Retinaldehyde
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