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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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wolters Kluwer Medknow Publications
2023-04-01
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| Serie: | Taiwan Journal of Ophthalmology |
| Soggetti: | |
| Accesso online: | https://journals.lww.com/10.4103/tjo.TJO-D-22-00152 |
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