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...

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Detaylı Bibliyografya
Yayımlandı:Am J Ophthalmol Case Rep
Asıl Yazarlar: Alshamrani, Abdulaziz A., Raddadi, Osama, Schatz, Patrik, Lenzner, Steffen, Neuhaus, Christine, Azzam, Eman, Abdelkader, Ehab
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2020
Konular:
Case Report
Online Erişim: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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