Genetic and clinical diagnosis of a Chinese family with incomplete congenital stationary night blindness caused by a novel CACNA1F mutation
We here describe the clinical features and identify the genetic cause of incomplete congenital stationary night blindness (CSNB) in a Chinese family. Three patients from a three-generation Chinese family were clinically examined. They exhibited nystagmus, hyperopia, and undetectable ERG a-wave and b...
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| Auteurs principaux: | , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Wolters Kluwer Medknow Publications
2024-04-01
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| Collection: | Indian Journal of Ophthalmology. Case Reports |
| Sujets: | |
| Accès en ligne: | https://journals.lww.com/10.4103/IJO.IJO_943_23 |
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