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Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants
PURPOSE: To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. OBSERVATIONS: Six siblings, age range 50–75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and gen...
Spremljeno u:
| Izdano u: | Am J Ophthalmol Case Rep |
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| Glavni autori: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier
2020
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7315105/ https://ncbi.nlm.nih.gov/pubmed/32613137 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2020.100780 |
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