Genetic testing confirmed osteopetrosis with initial presentation of nystagmus
Osteopetrosis (OS) is a rare heritable disorder characterized by osteoclast dysfunction and increased bone density on radiography. Optic nerve osseous compression is the most frequent ocular complication of OS, with nystagmus, strabismus, ptosis, proptosis, and lagophthalmos occurring less frequentl...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Wolters Kluwer Medknow Publications
2023-04-01
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| シリーズ: | Taiwan Journal of Ophthalmology |
| 主題: | |
| オンライン･アクセス: | https://journals.lww.com/10.4103/tjo.TJO-D-22-00152 |
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