A Case of Tuberous Sclerosis.
- Author:
Yoon Jung KU
1
;
Eun Ah KIM
;
Young Bock HAN
Author Information
1. Department of Ophthalmology, College of Medicine, I-Hwa Weman University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Tuberous Sclerosis;
Retinal hamartoma
- MeSH:
Angiomyolipoma;
Epilepsy;
Hamartoma;
Humans;
Intellectual Disability;
Kidney;
Male;
Retinaldehyde;
Skin;
Skull;
Tuberous Sclerosis*;
Young Adult
- From:Journal of the Korean Ophthalmological Society
1995;36(2):355-360
- CountryRepublic of Korea
- Language:Korean
-
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.
