抄録
We report the first known case of tuberous sclerosis associated with granular corneal dystrophy. When the patient was 4 months old tuberous sclerosis and epilepsy were diagnosed, when he was 16 years old retinal tumors were found in both eyes, and when he was 21 years old granular corneal dystrophy was diagnosed. The patient is now 33 years old and his condition is the same as at age 21. This patient's two autosomal dominant conditions could be caused by the same genetic abnormality or by the presence of two separate genetic abnormalities occurring together.
| 本文言語 | English |
|---|---|
| ページ(範囲) | 1100-1102 |
| ページ数 | 3 |
| ジャーナル | Folia Ophthalmologica Japonica |
| 巻 | 48 |
| 号 | 9 |
| 出版ステータス | Published - 9月 1997 |
ASJC Scopus subject areas
- 眼科学
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