Alström’s Syndrome, Leber’s Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis
A case of a patient with the Alström syndrome (AS) that was misdiagnosed as Leber’s hereditary optic neuropathy or retinitis pigmentosa for 13 years is presented. AS is a rare genetic disorder caused by mutations in the ALMS1 gene. AS may lead to abnormal ciliary formation and function. AS affects m...
| Main Authors: | , , |
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| 格式: | 文件 |
| 语言: | English |
| 出版: |
Wiley
2023-01-01
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| 丛编: | Case Reports in Ophthalmological Medicine |
| 在线阅读: | http://dx.doi.org/10.1155/2023/9409036 |